ClinVar Miner

List of variants in gene OCA2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00023
NM_000275.3(OCA2):c.1688C>T (p.Pro563Leu) rs201904219 0.00014
NM_000275.3(OCA2):c.1027G>A (p.Ala343Thr) rs756251130 0.00006
NM_000275.3(OCA2):c.1262G>A (p.Arg421Gln) rs369322694 0.00006
NM_000275.3(OCA2):c.1759G>A (p.Ala587Thr) rs759401481 0.00006
NM_000275.3(OCA2):c.2446A>G (p.Met816Val) rs766970716 0.00005
NM_000275.3(OCA2):c.65C>T (p.Thr22Met) rs779114740 0.00003
NM_000275.3(OCA2):c.1226A>G (p.Tyr409Cys) rs376863406 0.00002
NM_000275.3(OCA2):c.1298C>T (p.Ala433Val) rs780239785 0.00002
NM_000275.3(OCA2):c.1333A>G (p.Thr445Ala) rs2041305093 0.00002
NM_000275.3(OCA2):c.973G>A (p.Gly325Arg) rs987498934 0.00002
NM_000275.3(OCA2):c.1016C>T (p.Ala339Val) rs747940330 0.00001
NM_000275.3(OCA2):c.1061T>C (p.Leu354Pro) rs1008522653 0.00001
NM_000275.3(OCA2):c.1484A>G (p.Asn495Ser) rs531606889 0.00001
NM_000275.3(OCA2):c.1846A>G (p.Arg616Gly) rs199980244 0.00001
NM_000275.3(OCA2):c.1888T>A (p.Leu630Met) rs1204760169 0.00001
NM_000275.3(OCA2):c.1906A>G (p.Met636Val) rs750047317 0.00001
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu) rs763881975 0.00001
NM_000275.3(OCA2):c.386A>G (p.Asp129Gly) rs765510809 0.00001
NM_000275.3(OCA2):c.481A>G (p.Ser161Gly) rs758157709 0.00001
NM_000275.3(OCA2):c.649G>A (p.Val217Met) rs773252077 0.00001
NM_000275.3(OCA2):c.980T>C (p.Val327Ala) rs780219028 0.00001
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr) rs1456118236
NM_000275.3(OCA2):c.1033A>G (p.Ile345Val)
NM_000275.3(OCA2):c.1105G>A (p.Val369Met)
NM_000275.3(OCA2):c.1135G>A (p.Val379Met) rs1464056529
NM_000275.3(OCA2):c.1340T>C (p.Leu447Pro) rs2548345135
NM_000275.3(OCA2):c.1382A>G (p.Asn461Ser)
NM_000275.3(OCA2):c.1442C>T (p.Ala481Val) rs2548339142
NM_000275.3(OCA2):c.1547T>C (p.Ile516Thr) rs2548281887
NM_000275.3(OCA2):c.1705A>C (p.Thr569Pro) rs2140704912
NM_000275.3(OCA2):c.1753C>G (p.Leu585Val)
NM_000275.3(OCA2):c.197A>G (p.Gln66Arg) rs1322917049
NM_000275.3(OCA2):c.2107T>C (p.Tyr703His) rs2505568859
NM_000275.3(OCA2):c.2170G>A (p.Ala724Thr)
NM_000275.3(OCA2):c.2300C>T (p.Pro767Leu)
NM_000275.3(OCA2):c.2395C>A (p.Gln799Lys) rs781471173
NM_000275.3(OCA2):c.275C>A (p.Ser92Tyr)
NM_000275.3(OCA2):c.337A>T (p.Ile113Leu)
NM_000275.3(OCA2):c.368C>A (p.Ala123Asp)
NM_000275.3(OCA2):c.553G>T (p.Ala185Ser) rs2042701586
NM_000275.3(OCA2):c.674C>T (p.Ser225Phe)

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