ClinVar Miner

List of variants in gene combination KCNQ1, KCNQ1OT1 reported as pathogenic for Jervell-Lange Nielsen syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_181798.1(KCNQ1):c.1045_1048del (p.Met349fs) rs1554903804

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