ClinVar Miner

List of variants studied for short QT syndrome type 2 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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
Atrial fibrillation, familial, 3; Long QT syndrome 1; Short QT syndrome type 2
Long QT syndrome 1; Short QT syndrome type 2
Short QT syndrome type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	rs199472815	0.00001
NM_000218.3(KCNQ1):c.387-6394G>C
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu)	rs1001293702

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