ClinVar Miner

List of variants studied for Ocular albinism, type I by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NC_000023.9:g.9688757-?_9693917+?del
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.216_232del (p.Ala73fs) rs62645741
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.695C>A (p.Thr232Lys) rs137852297
NM_000273.3(GPR143):c.756_767+2del rs281865183
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)

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