ClinVar Miner

List of variants reported as uncertain significance for Bartter syndrome

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.715C>T (p.Gln239Ter) rs147394986 0.00071
NM_057176.3(BSND):c.141G>C (p.Gly47=) rs76222905 0.00053
NM_057176.3(BSND):c.69G>A (p.Thr23=) rs368632305 0.00032
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.843G>A (p.Ser281=) rs373929319 0.00009
NM_057176.3(BSND):c.225A>G (p.Pro75=) rs755110588 0.00007
NM_057176.3(BSND):c.842C>T (p.Ser281Leu) rs781101708 0.00006
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) rs199696535 0.00005
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892 0.00004
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) rs765579274 0.00003
NM_057176.3(BSND):c.915C>A (p.Asp305Glu) rs1456638401 0.00001
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.214A>T (p.Ile72Phe) rs1644382614
NM_057176.3(BSND):c.27C>T (p.Ile9=) rs371937424
NM_057176.3(BSND):c.393G>T (p.Leu131Phe) rs201387711
NM_057176.3(BSND):c.409G>C (p.Gly137Arg) rs749600956
NM_057176.3(BSND):c.572C>T (p.Pro191Leu) rs1184835309
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896

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