ClinVar Miner

List of variants studied for Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 by New York Genome Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) rs1410404016

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