ClinVar Miner

List of variants reported as likely pathogenic for Arrhythmia

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Total variants: 35
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HGVS dbSNP
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs)
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.3(KCNQ1):c.604+1G>A
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)
NM_000238.4(KCNH2):c.2959dup (p.Leu987fs)
NM_000238.4(KCNH2):c.77-1G>T
NM_000335.4(SCN5A):c.1613del (p.Gly538fs) rs1553704183
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.5(SCN5A):c.3954_3960+1dup
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.5318del (p.Asn1773fs)
NM_000335.5(SCN5A):c.703+1G>T
NM_172056.2(KCNH2):c.1474C>T (p.His492Tyr) rs199472910
NM_172056.2(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794
NM_181798.1(KCNQ1):c.1256C>T (p.Ser419Leu) rs199473480
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) rs199472805
NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys) rs199472696
NM_181798.1(KCNQ1):c.1512del (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) rs120074178
NM_181798.1(KCNQ1):c.290C>T (p.Thr97Met) rs199472706
NM_181798.1(KCNQ1):c.302+5G>A rs397508122
NM_181798.1(KCNQ1):c.554C>T (p.Thr185Ile) rs120074182
NM_181798.1(KCNQ1):c.740T>A (p.Leu247His) rs199472767
NM_181798.1(KCNQ1):c.870+2T>C rs794728528
NM_181798.1(KCNQ1):c.96+5G>A rs397508111
NM_198056.2(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met) rs199473282
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) rs137854604
NM_198056.2(SCN5A):c.5356_5357del (p.Leu1786fs) rs886037903
NM_198056.2(SCN5A):c.689T>C (p.Ile230Thr) rs199473073

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