ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance for Jervell and Lange-Nielsen syndrome

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Total variants: 16
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NM_000218.2(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.2(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_181798.1(KCNQ1):c.*160C>A rs886048167
NM_181798.1(KCNQ1):c.*26C>A rs886048166
NM_181798.1(KCNQ1):c.*292C>A rs886048169
NM_181798.1(KCNQ1):c.*398C>T rs886048170
NM_181798.1(KCNQ1):c.*554T>G rs886048172
NM_181798.1(KCNQ1):c.*887_*889del rs886048175
NM_181798.1(KCNQ1):c.*897G>T rs561861522
NM_181798.1(KCNQ1):c.1592C>A (p.Thr531Asn) rs377661455
NM_181798.1(KCNQ1):c.1598C>A (p.Pro533His) rs886048165
NM_181798.1(KCNQ1):c.269C>T (p.Ser90Phe) rs886048163
NM_181798.1(KCNQ1):c.400-6G>T rs886048164
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.870+13C>T rs201364493
NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln) rs145229963

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