ClinVar Miner

List of variants in gene CACNA2D1 studied for short QT syndrome

Included ClinVar conditions (12):

Andersen Tawil syndrome; Short QT syndrome type 1; Atrial fibrillation, familial, 1
Andersen Tawil syndrome; Short QT syndrome type 3
Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial, 9
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
Short QT syndrome
Short QT syndrome 7
Short QT syndrome type 1
Short QT syndrome type 1; Long QT syndrome 2
Short QT syndrome type 2
Short QT syndrome type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu)	rs756707031	0.00004
NM_000722.4(CACNA2D1):c.2721A>G (p.Ala907=)	rs758369222

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