ClinVar Miner

List of variants reported as pathogenic for Jervell and Lange-Nielsen syndrome 1 by OMIM

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Total variants: 8
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HGVS dbSNP
KCNQ1, IVS1
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) rs120074189
NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) rs120074190
NM_181798.1(KCNQ1):c.1511_1530del (p.Pro504fs) rs397508103
NM_181798.1(KCNQ1):c.186dup (p.Arg63fs) rs397508117
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) rs120074186
NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) rs397508110

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