ClinVar Miner

List of variants studied for Tyrosinase-positive oculocutaneous albinism by Genetic Services Laboratory, University of Chicago

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839 0.00002
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) rs763819379 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)

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