ClinVar Miner

List of variants in gene combination KCNQ1, KCNQ1OT1 reported as likely benign for Jervell and Lange-Nielsen syndrome 1

Included ClinVar conditions (5):

Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2
Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=)	rs137887424	0.00045
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)	rs200275211	0.00011

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