ClinVar Miner

List of variants reported as pathogenic for Bartter disease type 4a

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 9
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HGVS dbSNP
BSND, EX3-EX4 DEL
BSND, IVS1, 41-BP DEL
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289
NM_057176.3(BSND):c.1A>T (p.Met1Leu) rs74315284
NM_057176.3(BSND):c.22C>T (p.Arg8Trp) rs74315285
NM_057176.3(BSND):c.23G>T (p.Arg8Leu) rs74315288
NM_057176.3(BSND):c.28G>A (p.Gly10Ser) rs74315287
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286
NM_057176.3(BSND):c.452del (p.Pro151fs) rs765135576

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