ClinVar Miner

List of variants studied for albinism

Included ClinVar conditions (6):
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00022
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_022081.6(HPS4):c.384+1G>A rs201334605 0.00006
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu) rs936878316 0.00003
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240 0.00003
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381 0.00001
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
NC_000023.9:g.9688757-?_9693917+?del
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) rs1057518787
NM_000273.3(GPR143):c.216_232del (p.Ala73fs) rs62645741
NM_000273.3(GPR143):c.223dup (p.Ala75fs) rs672601353
NM_000273.3(GPR143):c.346T>G (p.Cys116Gly) rs62635030
NM_000273.3(GPR143):c.360+2T>C rs2146700764
NM_000273.3(GPR143):c.361-2A>C rs2146699664
NM_000273.3(GPR143):c.36del (p.Thr13fs)
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000273.3(GPR143):c.456-5_463del rs2146691632
NM_000273.3(GPR143):c.548+2T>A rs2083438278
NM_000273.3(GPR143):c.548+2T>C rs2083438278
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297
NM_000273.3(GPR143):c.73C>T (p.Gln25Ter) rs2146705998
NM_000273.3(GPR143):c.756_767+2del rs281865183
NM_000273.3(GPR143):c.767+10C>G rs3788938
NM_000273.3(GPR143):c.767+1G>A rs2146687459
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser) rs62635042
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly) rs62635045
NM_000273.3(GPR143):c.885+1G>A rs281865184
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)
NM_000275.3(OCA2):c.646+1825_807+679del
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_001354768.3(NRL):c.448_466dup (p.Glu156fs) rs1555339028
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) rs1882493359
NM_001922.5(DCT):c.183C>G (p.Cys61Trp) rs1885297366

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