ClinVar Miner

List of variants studied for Congenital stationary night blindness 1C by Revvity Omics, Revvity

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter) rs763546583 0.00001
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228 0.00001
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter) rs1195734631
NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs) rs754705612
NM_001252024.2(TRPM1):c.3496+2T>C rs773030662

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