ClinVar Miner

List of variants in gene SLC4A3 reported as uncertain significance for short QT syndrome

Included ClinVar conditions (12):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_005070.4(SLC4A3):c.1456A>G (p.Lys486Glu)
NM_005070.4(SLC4A3):c.1486G>A (p.Asp496Asn)
NM_005070.4(SLC4A3):c.1781G>A (p.Arg594Gln)

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