ClinVar Miner

List of variants reported as likely pathogenic by Department of Ophthalmology,Flinders University

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Total variants: 4
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HGVS dbSNP
NM_000394.4(CRYAA):c.440del (p.Gln147fs) rs1114167311
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) rs74315489
NM_015480.3(NECTIN3):c.886A>C (p.Asn296His) rs79006549
NM_145655.3(GCNT2):c.1169_1172del (p.Asn390fs) rs1114167314

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