ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
KCNQ1, IVS1
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_000218.2(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190
NM_000218.2(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.2(KCNQ1):c.451_452del (p.Leu151fs) rs397508110
NM_000218.2(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000219.4:c.[172A>C;176T>C] rs281865421
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445

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