ClinVar Miner

List of variants reported as uncertain significance for Oculocutaneous albinism type 4

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Total variants: 39
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HGVS dbSNP
NM_016180.5(SLC45A2):c.*1G>A
NM_016180.5(SLC45A2):c.-12C>T
NM_016180.5(SLC45A2):c.-30G>T
NM_016180.5(SLC45A2):c.-7A>G
NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys)
NM_016180.5(SLC45A2):c.1089C>T (p.Tyr363=) rs148156477
NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys) rs201140684
NM_016180.5(SLC45A2):c.1156+7C>T rs767910207
NM_016180.5(SLC45A2):c.1157-10C>T rs371152353
NM_016180.5(SLC45A2):c.1208C>T (p.Thr403Met)
NM_016180.5(SLC45A2):c.1233G>A (p.Gly411=)
NM_016180.5(SLC45A2):c.1235C>T (p.Thr412Met)
NM_016180.5(SLC45A2):c.1251C>G (p.Leu417=)
NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys) rs142175557
NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His) rs142680641
NM_016180.5(SLC45A2):c.141C>T (p.Phe47=)
NM_016180.5(SLC45A2):c.1516G>A (p.Val506Ile)
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213
NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu)
NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=) rs373174326
NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs) rs780732891
NM_016180.5(SLC45A2):c.161C>T (p.Ala54Val)
NM_016180.5(SLC45A2):c.178C>T (p.Leu60=)
NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu) rs779099623
NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr) rs886060520
NM_016180.5(SLC45A2):c.264C>G (p.Val88=) rs149213379
NM_016180.5(SLC45A2):c.287G>C (p.Arg96Pro)
NM_016180.5(SLC45A2):c.310C>T (p.Pro104Ser)
NM_016180.5(SLC45A2):c.324C>G (p.Thr108=)
NM_016180.5(SLC45A2):c.372T>A (p.Ala124=) rs886060519
NM_016180.5(SLC45A2):c.432C>T (p.Val144=)
NM_016180.5(SLC45A2):c.528G>A (p.Lys176=)
NM_016180.5(SLC45A2):c.602A>G (p.Asp201Gly)
NM_016180.5(SLC45A2):c.627A>G (p.Arg209=) rs755956613
NM_016180.5(SLC45A2):c.773C>T (p.Pro258Leu)
NM_016180.5(SLC45A2):c.799G>A (p.Glu267Lys)
NM_016180.5(SLC45A2):c.834C>T (p.Tyr278=) rs116887602
NM_016180.5(SLC45A2):c.888+14A>G
NM_016180.5(SLC45A2):c.986C>T (p.Thr329Ile)

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