ClinVar Miner

List of variants studied for X-linked recessive ocular albinism

Included ClinVar conditions (2):
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000273.3(GPR143):c.1133G>A (p.Ser378Asn) rs150992924 0.00099
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00027
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu) rs936878316 0.00003
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NM_000273.3(GPR143):c.695C>T (p.Thr232Met) rs137852297 0.00002
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
NC_000023.9:g.9688757-?_9693917+?del
NM_000273.3(GPR143):c.-57_3del
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) rs2518642442
NM_000273.3(GPR143):c.370C>T (p.Gln124Ter)
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.706A>G (p.Arg236Gly) rs2518626827
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.885+1G>A rs281865184
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs) rs2518622680
NM_000273.3(GPR143):c.935G>T (p.Gly312Val) rs2083394185

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