ClinVar Miner

List of variants reported as pathogenic for Gitelman syndrome by Center of Genomic medicine, Geneva, University Hospital of Geneva

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_001126108.2(SLC12A3):c.1180+1G>T	rs749098014	0.00001
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	rs200697179

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