ClinVar Miner

List of variants reported as uncertain significance for Gitelman syndrome by Baylor Genetics

Included ClinVar conditions (2):

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_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr)	rs201318038	0.00006
NM_001126108.2(SLC12A3):c.1196G>A (p.Arg399His)	rs13306668
NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)

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