ClinVar Miner

List of variants studied for Atrial fibrillation, familial, 3; Long QT syndrome 1; Short QT syndrome type 2

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa) rs2494325585
NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg) rs1589884451

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