ClinVar Miner

List of variants reported as pathogenic for Bartter syndrome by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP
BSND, EX3-EX4 DEL
BSND, IVS1, 41-BP DEL
CLCNKB, DEL
CLCNKB, IVS7AS, A-G, -2
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.371C>T (p.Pro124Leu) rs121909131
NM_000085.4(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132
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_001184832.2(SLC12A1):c.1137del (p.Phe380fs) rs1057520300
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.2095del (p.Asp699fs) rs1057519608
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.629-504A>G rs774515747
NM_001184832.2(SLC12A1):c.814G>T (p.Val272Phe) rs137853158
NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys) rs121909137
NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter) rs121909138
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289
NM_057176.3(BSND):c.1A>T (p.Met1Leu) rs74315284
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.3G>A (p.Met1Ile) rs74315286
NM_153767.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778
NM_153767.3(KCNJ1):c.180C>G (p.Tyr60Ter) rs104894244
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.535G>A (p.Ala179Thr) rs104894253
NM_153767.3(KCNJ1):c.584C>T (p.Ala195Val) rs104894246
NM_153767.3(KCNJ1):c.600C>G (p.Ser200Arg) rs104894245
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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