ClinVar Miner

List of variants in gene KIT reported as likely benign for Partial albinism

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Total variants: 12
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HGVS dbSNP
NM_000222.2(KIT):c.*1241G>A rs114377961
NM_000222.2(KIT):c.*149C>T rs2213181
NM_000222.2(KIT):c.*1524A>G rs17084736
NM_000222.2(KIT):c.*1704G>T rs8022
NM_000222.2(KIT):c.1119C>T (p.Tyr373=) rs72549293
NM_000222.2(KIT):c.1621A>C (p.Met541Leu) rs3822214
NM_000222.2(KIT):c.1638A>G (p.Lys546=) rs55986963
NM_000222.2(KIT):c.1794A>T (p.Gly598=) rs72549292
NM_000222.2(KIT):c.2394C>T (p.Ile798=) rs55789615
NM_000222.2(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000222.2(KIT):c.2586G>C (p.Leu862=) rs3733542
NM_000222.2(KIT):c.2847C>T (p.Pro949=) rs56288823

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