ClinVar Miner

List of variants reported as likely pathogenic for Congenital long QT syndrome

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Total variants: 19
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1686delG rs794728562
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1591-1G>A rs1590081328
NM_000218.3(KCNQ1):c.1685+2T>G rs1590081467
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_172056.2(KCNH2):c.1474C>T (p.His492Tyr) rs199472910
NM_172056.2(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_172056.2(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_181798.1(KCNQ1):c.1141G>T (p.Glu381Ter) rs794728530
NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) rs794728537
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.302+1G>A rs1589957233
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458

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