AVDB

Variant Browser

The Variant Browser provides comprehensive information on clinically significant variants identified within the Emirati cohort. For each variant, the browser presents detailed data, including chromosomal location, HGVS annotations (c. and p.), allele counts, allele frequencies, and population-specific metrics such as carrier rates and the probability of at-risk couples, particularly in the context of first cousin marriages. This functionality enables users to explore specific mutations and their implications for disease, thereby facilitating informed variant interpretation and clinical decision-making within the framework of public health genetics.

Gene
Chrom Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency View In Ensembl View In UCSC
6 32008198 CYP21A2 NM_000500.7:c.955C>T p.Gln319* 135 0.043132 Link Link
16 3293257 MEFV NM_000243.3:c.2230G>T p.Ala744Ser 73 0.028057 Link Link
1 94473807 ABCA4 NM_000350.3:c.5882G>A NP_000341.2:p.Gly1961Glu 53 0.01675 Link Link
11 5248155 HBB NM_000518.5:c.92+5G>C p.? 121 0.016332 Link Link
11 5248232 HBB NM_000518.5:c.20A>T p.Glu7Val 121 0.015494 Link Link
13 23894840 SGCG NM_000231.3:c.643delG NP_000222.2:p.Ala215Leufs*65 32 0.0134 Link Link
11 5255781 HBD NM_000519.4:c.-118C>T 31 0.012982 Link Link
7 80302709 CD36 NM_001001547.3:c.1240_1243dupCTTT NP_001001547.1:p.Trp415Serfs*4 41 0.012563 Link Link
6 32007887 CYP21A2 NM_000500.9:c.844G>T NP_000491.4:p.Val282Leu 135 0.011725 Link Link
3 165548529 BCHE NM_000055.4:c.293A>G p.Asp98Gly 29 0.011307 Link Link
11 46761055 F2 NM_000506.5:c.*97G>A p.? 22 0.009213 Link Link
2 38302350 CYP1B1 NM_000104.4:c.182G>A NP_000095.2:p.Gly61Glu 27 0.009213 Link Link
21 34951753 DONSON NM_017613.4:c.1466A>C p.Lys489Thr 23 0.009213 Link Link
16 226775 HBA1 NM_000558.5:c.60delG NP_000549.1:p.His21Thrfs*29 34 0.007119 Link Link
16 226808 HBA1 NM_000558.5:c.95+2_95+6delTGAGG 34 0.0067 Link Link
2 215866360 ABCA12 NM_173076.3:c.2785C>T p.Arg929Cys 16 0.0067 Link Link
1 155261709 PKLR NM_000298.6:c.1456C>T NP_000289.1:p.Arg486Trp 18 0.006281 Link Link
12 103306564 PAH NM_000277.3:c.168+5G>C p.? 40 0.006281 Link Link
13 113773012 F7 NM_000131.4:c.1091G>A NP_000122.1:p.Arg364Gln 18 0.006281 Link Link
13 20763686 GJB2 NM_004004.6:c.35delG NP_003995.2:p.Gly12Valfs*2 30 0.006281 Link Link
17 45361880 ITGB3 NM_000212.3:c.433G>A p.Asp145Asn 15 0.006281 Link Link
11 5246908 HBB NM_000518.5:c.364G>C NP_000509.1:p.Glu122Gln 121 0.005444 Link Link
16 223004 HBA2 NM_000517.6:c.95+2_95+6delTGAGG 22 0.005444 Link Link
15 45361217 SORD NM_003104.6:c.757delG NP_003095.2:p.Ala253Glnfs*27 12 0.005025 Link Link
2 166626727 GALNT3 NM_004482.4:c.484C>T NP_004473.2:p.Arg162Ter 16 0.005025 Link Link
1 22175468 HSPG2 NM_005529.7:c.7503C>G NP_005520.4:p.Tyr2501Ter 14 0.004606 Link Link
2 1507755 TPO NM_000547.6:c.2422delT NP_000538.3:p.Cys808Alafs*24 15 0.004606 Link Link
10 16946073 CUBN NM_001081.4:c.7954delT NP_001072.2:p.Ser2652Glnfs*24 52 0.004188 Link Link
11 5248027 HBB NM_000518.5:c.93-22_95del p.? 121 0.004188 Link Link
1 43804317 MPL NM_005373.3:c.317C>T NP_005364.1:p.Pro106Leu 9 0.003769 Link Link
16 222971 HBA2 NM_000517.6:c.60delG NP_000508.1:p.His21Thrfs*29 22 0.003769 Link Link
10 17110074 CUBN NM_001081.4:c.2997delA NP_001072.2:p.Ser1000Profs*21 52 0.00335 Link Link
10 17110140 CUBN NM_001081.4:c.2931delT NP_001072.2:p.His978Ilefs*43 52 0.00335 Link Link
10 17110149 CUBN NM_001081.4:c.2922delC NP_001072.2:p.Phe974Leufs*47 52 0.00335 Link Link
10 17110176 CUBN NM_001081.4:c.2895delA NP_001072.2:p.Gln965Hisfs*5 52 0.00335 Link Link
10 17110195 CUBN NM_001081.4:c.2876delC NP_001072.2:p.Thr959Ilefs*5 52 0.00335 Link Link
16 57493495 COQ9 NM_020312.4:c.730C>T NP_064708.1:p.Arg244Ter 8 0.00335 Link Link
2 44099114 ABCG8 NM_022437.3:c.965-1G>C p.? 10 0.00335 Link Link
7 107329499 SLC26A4 NM_000441.2:c.1003T>C NP_000432.1:p.Phe335Leu 19 0.00335 Link Link
7 74197872 NCF1 NM_000265.7:c.579G>A NP_000256.4:p.Trp193Ter 8 0.00335 Link Link
1 94520684 ABCA4 NM_000350.3:c.2570T>C p.Leu857Pro 53 0.002931 Link Link
11 89017973 TYR NM_000372.5:c.1217C>T NP_000363.1:p.Pro406Leu 14 0.002931 Link Link
12 58204298 AVIL NM_006576.3:c.595C>T p.Arg199* 7 0.002931 Link Link
16 16256865 ABCC6 NM_001171.6:c.3491G>A NP_001162.5:p.Arg1164Gln 11 0.002931 Link Link
2 29294161 PCARE NM_001029883.3:c.2967delT NP_001025054.1:p.Val990Trpfs*45 8 0.002931 Link Link
22 24896073 UPB1 NM_016327.3:c.105-2A>G 10 0.002931 Link Link
4 186321580 UFSP2 NM_018359.4:c.1376A>C p.Asn459Thr 7 0.002931 Link Link
6 65098611 EYS NM_001142800.2:c.6050G>T NP_001136272.1:p.Gly2017Val 15 0.002931 Link Link
9 35091449 PIGO NM_032634.4:c.2435T>G NP_116023.2:p.Leu812Ter 7 0.002931 Link Link
1 57347283 C8A NM_000562.3:c.630C>A NP_000553.1:p.Tyr210Ter 6 0.002513 Link Link
13 20766921 GJB2 NM_004004.6:c.-23+1G>A p.? 30 0.002513 Link Link
14 21780617 RPGRIP1 NM_020366.4:c.1107delA NP_065099.3:p.Glu370Asnfs*5 11 0.002513 Link Link
16 46729525 ORC6 NM_014321.4:c.507delA NP_055136.1:p.Ala170Leufs*10 6 0.002513 Link Link
17 78073394 CCDC40 NM_017950.4:c.3249C>A NP_060420.2:p.Tyr1083Ter 8 0.002513 Link Link
5 40955530 C7 NM_000587.4:c.1135G>C NP_000578.2:p.Gly379Arg 6 0.002513 Link Link
5 54529084 CCNO NM_021147.5:c.259_268dupGCCCAGCCCG NP_066970.3:p.Val90Glyfs*49 7 0.002513 Link Link
7 107315505 SLC26A4 NM_000441.2:c.716T>A p.Val239Asp 19 0.002513 Link Link
7 141352702 AGK NM_018238.4:c.1247delT NP_060708.1:p.Met416Serfs 6 0.002513 Link Link
7 80300333 CD36 NM_001001547.3:c.859G>T NP_001001547.1:p.Gly287Ter 41 0.002513 Link Link
9 123169289 CDK5RAP2 NM_018249.6:c.4963+1G>A 7 0.002513 Link Link
1 12018684 PLOD1 NM_000302.4:c.955C>T p.Arg319Ter 5 0.002094 Link Link
10 105796248 COL17A1 NM_000494.4:c.3418+2delT 7 0.002094 Link Link
10 73579996 PSAP NM_002778.4:c.1005+1G>A p.? 5 0.002094 Link Link
11 5247806 HBB NM_000518.5:c.315+1G>A 121 0.002094 Link Link
12 48240526 VDR NM_001017535.2:c.821G>A p.Arg274His 5 0.002094 Link Link
12 6127833 VWF NM_000552.5:c.4751A>G p.Tyr1584Cys 9 0.002094 Link Link
12 80838564 PTPRQ NM_001145026.2:c.98delinsATATG NP_001138498.1:p.Thr33Asnfs*16 5 0.002094 Link Link
15 72105907 NR2E3 NM_014249.4:c.926G>T NP_055064.1:p.Arg309Leu 7 0.002094 Link Link
17 19552394 ALDH3A2 NM_000382.3:c.109_110insA NP_000373.1:p.Arg37Glnfs*17 15 0.002094 Link Link
17 19552415 ALDH3A2 NM_000382.3:c.132dupC NP_000373.1:p.Ile45Hisfs*9 15 0.002094 Link Link
17 4923851 KIF1C NM_006612.6:c.1816delG NP_006603.2:p.Glu606Asnfs*34 10 0.002094 Link Link
17 4923885 KIF1C NM_006612.6:c.1850delC NP_006603.2:p.Pro617Argfs*23 10 0.002094 Link Link
19 55526373 GP6 NM_001083899.2:c.940_941insTG NP_001077368.2:p.Pro314Leufs*29 5 0.002094 Link Link
4 68619737 GNRHR NM_000406.3:c.317A>G NP_000397.1:p.Gln106Arg 7 0.002094 Link Link
5 178416086 GRM6 NM_000843.4:c.1204C>T NP_000834.2:p.Gln402Ter 5 0.002094 Link Link
6 88229382 RARS2 NM_020320.5:c.1156C>T NP_064716.2:p.Arg386Ter 7 0.002094 Link Link
9 36217396 GNE NM_001128227.3:c.2228T>C NP_001121699.1:p.Met743Thr 5 0.002094 Link Link
9 6550827 GLDC NM_000170.3:c.2545A>T NP_000161.2:p.Arg849Ter 5 0.002094 Link Link
11 22239825 ANO5 NM_213599.3:c.172C>T NP_998764.1:p.Arg58Trp 5 0.001675 Link Link
12 103248932 PAH NM_000277.3:c.688G>A NP_000268.1:p.Val230Ile 40 0.001675 Link Link
13 20763612 GJB2 NM_004004.6:c.109G>A NP_003995.2:p.Val37Ile 30 0.001675 Link Link
13 20763650 GJB2 NM_004004.6:c.71G>A p.Trp24* 30 0.001675 Link Link
14 21779996 RPGRIP1 NM_020366.4:c.944delT NP_065099.3:p.Leu315Argfs*12 11 0.001675 Link Link
14 88452941 GALC NM_000153.4:c.334A>G p.Thr112Ala 7 0.001675 Link Link
16 3293310 MEFV NM_000243.3:c.2177T>C NP_000234.1:p.Val726Ala 73 0.001675 Link Link
16 56899395 SLC12A3 NM_000339.2:c.248G>A p.Arg83Gln 8 0.001675 Link Link
17 19559758 ALDH3A2 NM_000382.3:c.551C>T NP_000373.1:p.Thr184Met 15 0.001675 Link Link
18 7038921 LAMA1 NM_005559.4:c.1451_1452insGG NP_005550.2:p.Cys485Alafs*9 9 0.001675 Link Link
18 7038945 LAMA1 NM_005559.4:c.1427delinsCGG NP_005550.2:p.Asn476Thrfs*18 9 0.001675 Link Link
2 166613705 GALNT3 NM_004482.4:c.1244A>G p.His415Arg 16 0.001675 Link Link
2 179323360 PJVK NM_001042702.5:c.667+6T>A p.? 4 0.001675 Link Link
2 38298377 CYP1B1 NM_000104.4:c.1120G>A p.Asp374Asn 27 0.001675 Link Link
3 164712061 SI NM_001041.4:c.4825C>T NP_001032.2:p.Arg1609Ter 7 0.001675 Link Link
4 187206919 F11 NM_000128.4:c.1432G>A NP_000119.1:p.Gly478Arg 5 0.001675 Link Link
8 87641195 CNGB3 NM_019098.5:c.1432C>T NP_061971.3:p.Arg478Ter 4 0.001675 Link Link
9 104189856 ALDOB NM_000035.4:c.448G>C NP_000026.2:p.Ala150Pro 4 0.001675 Link Link
9 140095139 TPRN NM_001128228.3:c.25delT NP_001121700.2:p.Ser9Argfs*22 6 0.001675 Link Link
1 1168571 B3GALT6 NM_080605.4:c.913C>T NP_542172.2:p.Gln305Ter 3 0.001256 Link Link
1 220330767 RAB3GAP2 NM_012414.4:c.3400delG NP_036546.2:p.Val1134Trpfs*7 10 0.001256 Link Link
1 220330777 RAB3GAP2 NM_012414.4:c.3390delG NP_036546.2:p.Trp1131Glyfs*10 10 0.001256 Link Link