ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic for Cardiovascular phenotype

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Total variants: 19
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NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_181798.1(KCNQ1):c.1178T>G (p.Met393Arg) rs199473479
NM_181798.1(KCNQ1):c.1192G>A (p.Ala398Thr) rs120074188
NM_181798.1(KCNQ1):c.1256C>T (p.Ser419Leu) rs199473480
NM_181798.1(KCNQ1):c.1283G>A (p.Arg428His) rs199472800
NM_181798.1(KCNQ1):c.1288A>G (p.Lys430Glu) rs199472801
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1400G>C (p.Arg467Pro) rs199472815
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.187C>T (p.Arg63Trp) rs199473662
NM_181798.1(KCNQ1):c.311G>T (p.Arg104Leu) rs199472709
NM_181798.1(KCNQ1):c.379G>T (p.Val127Leu) rs120074179
NM_181798.1(KCNQ1):c.521A>T (p.Asp174Val) rs1554893260
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) rs120074186
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) rs199472760
NM_181798.1(KCNQ1):c.650C>A (p.Ala217Glu) rs199472763
NM_181798.1(KCNQ1):c.740T>A (p.Leu247His) rs199472767

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