ClinVar Miner

List of variants in gene OCA2 reported as likely benign by Preventiongenetics, part of Exact Sciences

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1887G>T (p.Val629=) rs1800415 0.01098
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619 0.00755
NM_000275.3(OCA2):c.1842+17C>T rs147311864 0.00751
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403 0.00182
NM_000275.3(OCA2):c.1117-17T>C rs200081580 0.00078
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923 0.00026
NM_000275.3(OCA2):c.1047C>T (p.Ile349=) rs767182132 0.00010
NM_000275.3(OCA2):c.999C>T (p.Ile333=) rs376454436 0.00004
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001

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