ClinVar Miner

List of variants in gene OCA2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465 0.00876
NM_000275.3(OCA2):c.365C>T (p.Thr122Ile) rs34385677 0.00249
NM_000275.3(OCA2):c.2245-6C>A rs368772032 0.00009
NM_000275.3(OCA2):c.1365-10T>C rs745738408 0.00002
GRCh38/hg38 15q13.1(chr15:28066147-28076266)x3

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