ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic for Long QT syndrome

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Total variants: 30
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HGVS dbSNP
NC_000011.10:g.(?_2570628)_(2572986_?)del
NM_000218.2(KCNQ1):c.1013C>T (p.Ser338Phe) rs199472758
NM_000218.2(KCNQ1):c.1032+1G>A rs397508070
NM_000218.2(KCNQ1):c.1032G>T (p.Ala344=)
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1515-2_1515-1delAG
NM_000218.2(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1685+1G>A rs794728531
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.2(KCNQ1):c.1702G>C (p.Gly568Arg)
NM_000218.2(KCNQ1):c.1894dupA (p.Arg632Lysfs) rs397508105
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.2(KCNQ1):c.605-1G>C
NM_000218.2(KCNQ1):c.612C>G (p.Ile204Met) rs199473455
NM_000218.2(KCNQ1):c.671C>T (p.Thr224Met) rs199472706
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.683+2T>G rs796052166
NM_000218.2(KCNQ1):c.684-2A>C
NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.2(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.2(KCNQ1):c.922-2A>G
NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met) rs199472755

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