ClinVar Miner

List of variants in gene SLC12A1 studied for Gitelman syndrome

Included ClinVar conditions (2):

Familial hypokalemia-hypomagnesemia
Familial hypokalemia-hypomagnesemia; Bartter syndrome

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_000338.3(SLC12A1):c.1970C>T (p.Ala657Val)	rs2041701051

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