ClinVar Miner

List of variants studied for Bartter syndrome by OMIM

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter) rs137853159 0.00033
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157 0.00006
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 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_000085.5(CLCNKB):c.371C>T (p.Pro124Leu) rs121909131 0.00003
NM_000085.5(CLCNKB):c.782-2A>G rs779908241 0.00002
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val) rs104894246 0.00002
NM_000085.5(CLCNKB):c.1046C>A (p.Ala349Asp) rs121909134 0.00001
NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs) rs1057520302 0.00001
NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter) rs121909138 0.00001
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu) rs104894254 0.00001
KCNJ1, TRP58TER
NC_000001.11:g.(?_16043782)_(16057326_?)del
NM_000085.5(CLCNKB):c.1294T>C (p.Tyr432His) rs121909135
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs) rs1057520300
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) rs1057520304
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp) rs1057520301
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs) rs1057519608
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs) rs1057520303
NM_000338.3(SLC12A1):c.724+4A>G rs774515747
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe) rs137853158
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_004070.4(CLCNKA):c.240G>C (p.Trp80Cys) rs121909137
NM_057176.3(BSND):c.157_177+20del rs1389952796
NM_057176.3(BSND):c.1A>T (p.Met1Leu) rs74315284
NM_057176.3(BSND):c.23G>T (p.Arg8Leu) rs74315288
NM_057176.3(BSND):c.273-887_*576del
NM_057176.3(BSND):c.28G>A (p.Gly10Ser) rs74315287
NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter) rs104894244
NM_153766.3(KCNJ1):c.265G>C (p.Asp89His) rs104894250
NM_153766.3(KCNJ1):c.315T>A (p.Asn105Lys) rs104894251
NM_153766.3(KCNJ1):c.42dup (p.Gly15fs) rs2135941091
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr) rs104894253
NM_153766.3(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.386_387del (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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