ClinVar Miner

List of variants studied for Jervell and Lange-Nielsen syndrome

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
NM_000219.5(KCNE1):c.-577C>T rs11702354 0.23004
NM_000218.3(KCNQ1):c.1393+31361T>A rs200391321 0.16051
NM_000218.3(KCNQ1):c.1393+22646C>G rs146407692 0.00925
NM_000218.3(KCNQ1):c.1393+21526C>T rs72847701 0.00923
NM_000218.3(KCNQ1):c.1393+21538C>T rs72850203 0.00923
NM_000219.6(KCNE1):c.*1226_*1229del rs551512090 0.00693
NM_000218.3(KCNQ1):c.1514+4974G>A rs188083723 0.00530
NC_000021.9:g.34512278T>C rs76210431 0.00186
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_000218.3(KCNQ1):c.*241G>A rs142023323 0.00048
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000219.5(KCNE1):c.-605G>A rs780282543 0.00008
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000218.3(KCNQ1):c.*554T>G rs886048172 0.00004
NM_000218.3(KCNQ1):c.*897G>T rs561861522 0.00004
NM_000219.5(KCNE1):c.-561C>T rs886057028 0.00004
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000219.6(KCNE1):c.*457G>A rs886057024 0.00003
NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn) rs377661455 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.*160C>A rs886048167
NM_000218.3(KCNQ1):c.*26C>A rs886048166
NM_000218.3(KCNQ1):c.*292C>A rs886048169
NM_000218.3(KCNQ1):c.*377del rs762386874
NM_000218.3(KCNQ1):c.*398C>T rs886048170
NM_000218.3(KCNQ1):c.*887_*889del rs886048175
NM_000218.3(KCNQ1):c.*889AAT[1] rs546360517
NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter) rs1060500629
NM_000218.3(KCNQ1):c.1251+13C>T rs201364493
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1686-2A>C
NM_000218.3(KCNQ1):c.1732+1G>T
NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His) rs886048165
NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.3(KCNQ1):c.650C>T (p.Ser217Phe) rs886048163
NM_000218.3(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000218.3(KCNQ1):c.781-6G>T rs886048164
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*946del rs142762112

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