ClinVar Miner

List of variants in gene OCA2 reported as pathogenic for Oculocutaneous albinism

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00078
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00040
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00014
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 0.00005
NM_000275.3(OCA2):c.440dup (p.Ser148fs) rs1057518192 0.00002
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459 0.00001
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro) rs766188851 0.00001
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter) rs201791790 0.00001
NM_000275.3(OCA2):c.565_566del (p.Leu189fs) rs1312967591 0.00001
NM_000275.3(OCA2):c.1079C>T (p.Ser360Phe) rs2548363498
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp) rs2548339234
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) rs1595660890
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg) rs774822330

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