ClinVar Miner

List of variants reported as uncertain significance for Bartter disease type 4A by Fulgent Genetics, Fulgent Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.763G>C (p.Glu255Gln) rs148609746 0.00014
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) rs146313023 0.00013
NM_057176.3(BSND):c.673C>T (p.Gln225Ter) rs776107884 0.00005
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) rs199696535 0.00005
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) rs765579274 0.00003
NM_057176.3(BSND):c.514G>A (p.Glu172Lys) rs774559680 0.00003
NM_057176.3(BSND):c.64G>A (p.Gly22Ser) rs145048739 0.00003
NM_057176.3(BSND):c.670C>A (p.Pro224Thr) rs1465563174 0.00001
NM_057176.3(BSND):c.737C>T (p.Ala246Val) rs926142735 0.00001
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.467C>A (p.Ala156Asp) rs1644395855
NM_057176.3(BSND):c.868A>G (p.Lys290Glu) rs1285206495

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