ClinVar Miner

Variants in gene OCA2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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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.796C>T (p.Arg266Trp) rs33929465 0.00876
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.574-19A>G rs145242923 0.00618
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) rs35110389 0.00395
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_000275.3(OCA2):c.365C>T (p.Thr122Ile) rs34385677 0.00249
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403 0.00182
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) rs7164127 0.00070
NM_000275.3(OCA2):c.954G>A (p.Met318Ile) rs529219961 0.00048
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser) rs201554429 0.00029
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923 0.00026
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418

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