ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic by Stanford Center for Inherited Cardiovascular Disease,Stanford University

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Gene type:
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Total variants: 18
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NM_000218.2(KCNQ1):c.1033G>A (p.Gly345Arg) rs199473471
NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1257del (p.Lys422fs) rs1554895166
NM_000218.2(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.2(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.521G>A (p.Arg174His) rs199472697
NM_000218.2(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.2(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730
NM_000218.2(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756

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