ClinVar Miner

List of variants studied for X-linked recessive ocular albinism

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Total variants: 13
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HGVS dbSNP
GPR143, 14-BP DEL, NT816
GPR143, 17-BP DEL
GPR143, 2-BP INS, NT992
GPR143, 420G-A
NC_000023.9:g.9688757-?_9693917+?del
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.223dup (p.Ala75fs) rs672601353
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
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.548+2T>A
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297

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