ClinVar Miner

List of variants studied for Bartter syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP
BSND, EX3-EX4 DEL
BSND, IVS1, 41-BP DEL
CLCNKB, DEL
KCNJ1, 1-BP INS, CODON 15
KCNJ1, TRP58TER
NM_000085.4(CLCNKB):c.1046C>A (p.Ala349Asp) rs121909134
NM_000085.4(CLCNKB):c.1294T>C (p.Tyr432His) rs121909135
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000085.4(CLCNKB):c.1381dup (p.Ile461fs) rs1057516207
NM_000085.4(CLCNKB):c.1476del (p.Gly493fs)
NM_000085.4(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000085.4(CLCNKB):c.18dup (p.Leu7fs)
NM_000085.4(CLCNKB):c.371C>T (p.Pro124Leu) rs121909131
NM_000085.4(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132
NM_000338.2(SLC12A1):c.1522G>A rs765347751
NM_000338.2(SLC12A1):c.[1522G>A];[735C>G]
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.393C>G (p.Cys131Trp) rs121909267
NM_000388.4(CASR):c.85A>G (p.Lys29Glu) rs397514729
NM_001165945.2(CLCNKB):c.118del (p.Arg40fs)
NM_001165945.2(CLCNKB):c.275-2A>G
NM_001184832.2(SLC12A1):c.1137del (p.Phe380fs) rs1057520300
NM_001184832.2(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_001184832.2(SLC12A1):c.1833del (p.Phe611fs) rs1057520304
NM_001184832.2(SLC12A1):c.1875G>A (p.Trp625Ter) rs137853159
NM_001184832.2(SLC12A1):c.1883C>A (p.Ala628Asp) rs1057520301
NM_001184832.2(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157
NM_001184832.2(SLC12A1):c.206G>A (p.Cys69Tyr)
NM_001184832.2(SLC12A1):c.2095del (p.Asp699fs) rs1057519608
NM_001184832.2(SLC12A1):c.2435T>G (p.Ile812Arg)
NM_001184832.2(SLC12A1):c.2494_2495GA[2] (p.Arg833fs) rs1057520303
NM_001184832.2(SLC12A1):c.2787dup (p.Thr931fs) rs1057520302
NM_001184832.2(SLC12A1):c.2834_2873+12del rs1566857461
NM_001184832.2(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_001184832.2(SLC12A1):c.629-504A>G rs774515747
NM_001184832.2(SLC12A1):c.668C>T (p.Thr223Met) rs377680472
NM_001184832.2(SLC12A1):c.814G>T (p.Val272Phe) rs137853158
NM_001184832.2(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_004070.4(CLCNKA):c.1613G>C (p.Arg538Pro) rs762119830
NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu)
NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys) rs121909137
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)
NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter) rs121909138
NM_057176.3(BSND):c.*175C>G rs4339899
NM_057176.3(BSND):c.*24A>C rs6682884
NM_057176.3(BSND):c.*94A>G rs80300625
NM_057176.3(BSND):c.-117T>C rs2500340
NM_057176.3(BSND):c.-156G>C rs183925883
NM_057176.3(BSND):c.-175C>T rs886046422
NM_057176.3(BSND):c.-241G>A rs12069526
NM_057176.3(BSND):c.-25C>T rs188418228
NM_057176.3(BSND):c.-34G>A rs768683733
NM_057176.3(BSND):c.-70C>G rs2500341
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289
NM_057176.3(BSND):c.177+11G>A rs78904893
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461
NM_057176.3(BSND):c.1A>T (p.Met1Leu) rs74315284
NM_057176.3(BSND):c.216C>A (p.Ile72=) rs755897497
NM_057176.3(BSND):c.22C>T (p.Arg8Trp) rs74315285
NM_057176.3(BSND):c.23G>T (p.Arg8Leu) rs74315288
NM_057176.3(BSND):c.28G>A (p.Gly10Ser) rs74315287
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286
NM_057176.3(BSND):c.402del (p.Glu135fs) rs1281690580
NM_057176.3(BSND):c.452del (p.Pro151fs) rs765135576
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.63C>T (p.Leu21=) rs141611486
NM_057176.3(BSND):c.696G>A (p.Arg232=) rs886046424
NM_057176.3(BSND):c.713T>A (p.Phe238Tyr) rs752564097
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896
NM_057176.3(BSND):c.893G>A (p.Gly298Glu) rs180858237
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617
NM_153767.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778
NM_153767.3(KCNJ1):c.155C>T (p.Thr52Met) rs373367600
NM_153767.3(KCNJ1):c.180C>G (p.Tyr60Ter) rs104894244
NM_153767.3(KCNJ1):c.262A>T (p.Lys88Ter) rs185212943
NM_153767.3(KCNJ1):c.265G>C (p.Asp89His) rs104894250
NM_153767.3(KCNJ1):c.315T>A (p.Asn105Lys) rs104894251
NM_153767.3(KCNJ1):c.443G>A (p.Gly148Glu) rs104894254
NM_153767.3(KCNJ1):c.505C>T (p.Arg169Cys) rs138120505
NM_153767.3(KCNJ1):c.535G>A (p.Ala179Thr) rs104894253
NM_153767.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868
NM_153767.3(KCNJ1):c.584C>T (p.Ala195Val) rs104894246
NM_153767.3(KCNJ1):c.600C>G (p.Ser200Arg) rs104894245
NM_153767.3(KCNJ1):c.626G>A (p.Gly209Glu) rs761781140
NM_153767.3(KCNJ1):c.955C>T (p.Arg319Ter) rs377205432
NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter) rs878854404
NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys) rs878854407
NM_177433.3(MAGED2):c.384_385TG[1] (p.Val129fs) rs878854406
NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter) rs875989852
NM_177433.3(MAGED2):c.991-2A>G rs878854405

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