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 Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs)
NM_000218.3(KCNQ1):c.1685+2T>G rs1590081467
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.605-1G>C rs1564820372
NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter)

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