ClinVar Miner

List of variants in gene BSND studied for Bartter syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.-70C>G rs2500341 0.67045
NM_057176.3(BSND):c.-117T>C rs2500340 0.66208
NM_057176.3(BSND):c.*175C>G rs4339899 0.46025
NM_057176.3(BSND):c.*24A>C rs6682884 0.43300
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617 0.18512
NM_057176.3(BSND):c.177+11G>A rs78904893 0.06761
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_057176.3(BSND):c.*94A>G rs80300625 0.01711
NM_057176.3(BSND):c.-25C>T rs188418228 0.00331
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602 0.00328
NM_057176.3(BSND):c.-156G>C rs183925883 0.00313
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_057176.3(BSND):c.177+15G>C rs193020037 0.00108
NM_057176.3(BSND):c.527G>A (p.Arg176His) rs143711308 0.00092
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486 0.00079
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.597T>C (p.Asp199=) rs200886926 0.00040
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_057176.3(BSND):c.69G>A (p.Thr23=) rs368632305 0.00032
NM_057176.3(BSND):c.237C>T (p.Gly79=) rs528075528 0.00022
NM_057176.3(BSND):c.635A>G (p.Asn212Ser) rs200071888 0.00021
NM_057176.3(BSND):c.548+10T>C rs369882063 0.00020
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_057176.3(BSND):c.9C>T (p.Asp3=) rs141111550 0.00016
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_057176.3(BSND):c.282C>T (p.Pro94=) rs776609285 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.831G>A (p.Glu277=) rs143916830 0.00011
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) rs202128855 0.00010
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.*6T>C rs775078862 0.00006
NM_057176.3(BSND):c.842C>T (p.Ser281Leu) rs781101708 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.909C>T (p.Ala303=) rs756452755 0.00005
NM_057176.3(BSND):c.*15G>A rs777675138 0.00004
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.411G>A (p.Gly137=) rs758111009 0.00004
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892 0.00004
NM_057176.3(BSND):c.744G>A (p.Thr248=) rs754819005 0.00004
NM_057176.3(BSND):c.-34G>A rs768683733 0.00003
NM_057176.3(BSND):c.126C>T (p.Ser42=) rs138152773 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.417G>A (p.Pro139=) rs776717215 0.00002
NM_057176.3(BSND):c.546C>T (p.Pro182=) rs375551000 0.00002
NM_057176.3(BSND):c.97G>C (p.Val33Leu) rs754523289 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.183C>T (p.Thr61=) rs377452238 0.00001
NM_057176.3(BSND):c.288G>A (p.Pro96=) rs752911029 0.00001
NM_057176.3(BSND):c.402del (p.Glu135fs) rs1281690580 0.00001
NM_057176.3(BSND):c.501C>T (p.Gly167=) rs1463073048 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.915C>A (p.Asp305Glu) rs1456638401 0.00001
GRCh37/hg19 1p32.3(chr1:55464606-55482845)
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
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.214A>T (p.Ile72Phe) rs1644382614
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.272+1G>T rs1007109925
NM_057176.3(BSND):c.273-887_*576del
NM_057176.3(BSND):c.27C>T (p.Ile9=) rs371937424
NM_057176.3(BSND):c.28G>A (p.Gly10Ser) rs74315287
NM_057176.3(BSND):c.306G>T (p.Trp102Cys) rs1644394690
NM_057176.3(BSND):c.393G>A (p.Leu131=) rs201387711
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.452del (p.Pro151fs) rs765135576
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.572C>T (p.Pro191Leu) rs1184835309
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.810C>T (p.Tyr270=) rs1451582678
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896
NM_057176.3(BSND):c.868A>G (p.Lys290Glu) rs1285206495

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