ClinVar Miner

List of variants reported as uncertain significance for Bartter disease type 4A

Included ClinVar conditions (1):
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_057176.3(BSND):c.635A>G (p.Asn212Ser) rs200071888 0.00021
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_057176.3(BSND):c.763G>C (p.Glu255Gln) rs148609746 0.00014
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) rs201342416 0.00013
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) rs146313023 0.00013
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) rs202128855 0.00010
NM_057176.3(BSND):c.*6T>C rs775078862 0.00006
NM_057176.3(BSND):c.893G>A (p.Gly298Glu) rs180858237 0.00006
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.*15G>A rs777675138 0.00004
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892 0.00004
NM_057176.3(BSND):c.-34G>A rs768683733 0.00003
NM_057176.3(BSND):c.216C>A (p.Ile72=) rs755897497 0.00003
NM_057176.3(BSND):c.261C>T (p.Ala87=) rs747359694 0.00003
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) rs765579274 0.00003
NM_057176.3(BSND):c.294T>C (p.Tyr98=) rs1188080726 0.00003
NM_057176.3(BSND):c.514G>A (p.Glu172Lys) rs774559680 0.00003
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) rs750027126 0.00003
NM_057176.3(BSND):c.64G>A (p.Gly22Ser) rs145048739 0.00003
NM_057176.3(BSND):c.696G>A (p.Arg232=) rs886046424 0.00003
NM_057176.3(BSND):c.917T>C (p.Leu306Pro) rs139049536 0.00003
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
NM_057176.3(BSND):c.*56T>C rs1445213570 0.00001
NM_057176.3(BSND):c.-175C>T rs886046422 0.00001
NM_057176.3(BSND):c.402del (p.Glu135fs) rs1281690580 0.00001
NM_057176.3(BSND):c.670C>A (p.Pro224Thr) rs1465563174 0.00001
NM_057176.3(BSND):c.713T>A (p.Phe238Tyr) rs752564097 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.306G>T (p.Trp102Cys) rs1644394690
NM_057176.3(BSND):c.393G>T (p.Leu131Phe) rs201387711
NM_057176.3(BSND):c.467C>A (p.Ala156Asp) rs1644395855
NM_057176.3(BSND):c.52C>G (p.Leu18Val) rs754403589
NM_057176.3(BSND):c.604G>A (p.Asp202Asn) rs886046423
NM_057176.3(BSND):c.64G>C (p.Gly22Arg) rs145048739
NM_057176.3(BSND):c.758C>T (p.Pro253Leu) rs1644403055
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896
NM_057176.3(BSND):c.868A>G (p.Lys290Glu) rs1285206495

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