ClinVar Miner

List of variants in gene OCLN reported as uncertain significance by GeneDx

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001205254.2(OCLN):c.197G>T (p.Arg66Leu) rs116363086 0.00014
NM_001205254.2(OCLN):c.473C>T (p.Thr158Ile) rs756715369 0.00010
NM_001205254.2(OCLN):c.121C>G (p.Gln41Glu) rs753732841 0.00009
NM_001205254.2(OCLN):c.51-12T>C rs898963712 0.00006
NM_001205254.2(OCLN):c.454G>A (p.Ala152Thr) rs779726887 0.00004
NM_001205254.2(OCLN):c.1000A>G (p.Lys334Glu) rs1554055471 0.00001
NM_001205254.2(OCLN):c.311A>T (p.Tyr104Phe)
NM_001205254.2(OCLN):c.316T>G (p.Tyr106Asp) rs765225540
NM_001205254.2(OCLN):c.351CTATGG[2] (p.118YG[5]) rs755910661
NM_001205254.2(OCLN):c.469G>A (p.Val157Ile) rs139928771
NM_001205254.2(OCLN):c.469G>T (p.Val157Phe) rs139928771
NM_001205254.2(OCLN):c.631C>A (p.Gln211Lys) rs1768724141
NM_001205254.2(OCLN):c.712G>A (p.Val238Ile) rs2111976750
NM_001205254.2(OCLN):c.733A>G (p.Ile245Val) rs2111989926
NM_001205254.2(OCLN):c.835A>G (p.Ile279Val) rs2531136220
NM_001205254.2(OCLN):c.842G>T (p.Trp281Leu) rs1309670545
NM_001205254.2(OCLN):c.891+3_891+6del rs757484689

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