ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_057176.3(BSND):c.22C>T (p.Arg8Trp) rs74315285 0.00004
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286 0.00004
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
GRCh37/hg19 1p32.3(chr1:55464606-55482845)
NM_057176.3(BSND):c.10G>T (p.Glu4Ter) rs121908145
NM_057176.3(BSND):c.157_177+20del rs1389952796
NM_057176.3(BSND):c.1A>T (p.Met1Leu) rs74315284
NM_057176.3(BSND):c.23G>T (p.Arg8Leu) rs74315288
NM_057176.3(BSND):c.262G>T (p.Glu88Ter) rs771232166
NM_057176.3(BSND):c.273-887_*576del
NM_057176.3(BSND):c.28G>A (p.Gly10Ser) rs74315287
NM_057176.3(BSND):c.452del (p.Pro151fs) rs765135576

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