ClinVar Miner

List of variants reported as pathogenic for Jervell-Lange Nielsen syndrome by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.573_577delGCGCT (p.Arg192Cysfs) rs397508118

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