ClinVar Miner

List of variants reported as pathogenic for Bartter syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000085.5(CLCNKB):c.1381dup (p.Ile461fs) rs1057516207
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655

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