ClinVar Miner

List of variants reported as uncertain significance for short QT syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (12):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu)	rs756707031	0.00004
NM_000218.3(KCNQ1):c.796C>A (p.Leu266Met)	rs1263583359	0.00001
NM_000722.4(CACNA2D1):c.2721A>G (p.Ala907=)	rs758369222

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