ClinVar Miner

List of variants in gene SLC12A1 reported as likely pathogenic for Bartter disease type 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000338.2(SLC12A1):c.1522G>A rs765347751
NM_000338.2(SLC12A1):c.2834_2873+12del
NM_000338.2(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_001184832.1(SLC12A1):c.668C>T (p.Thr223Met) rs377680472

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