ClinVar Miner

List of variants reported as likely pathogenic for Bartter syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000085.4(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000338.2(SLC12A1):c.1522G>A rs765347751
NM_001184832.2(SLC12A1):c.2834_2873+12del rs1566857461
NM_001184832.2(SLC12A1):c.668C>T (p.Thr223Met) rs377680472
NM_001184832.2(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286
NM_153767.3(KCNJ1):c.955C>T (p.Arg319Ter) rs377205432

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