ClinVar Miner

List of variants studied for Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) rs138750983 0.00047
NM_000372.5(TYR):c.1067A>T (p.Asp356Val) rs180801021 0.00037
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00023
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00005
NM_000372.5(TYR):c.1099C>T (p.His367Tyr) rs776054795 0.00001
NM_000372.5(TYR):c.1132C>A (p.Gln378Lys)
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368

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