ClinVar Miner

List of variants in gene OCA2 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.*54A>G rs192734230 0.00144
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys) rs141611162 0.00021
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000275.3(OCA2):c.41C>T (p.Ala14Val) rs763734477 0.00006
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) rs372899234 0.00005
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser) rs201481836 0.00001
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu) rs2141895899
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) rs143320446

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