List of variants reported as pathogenic for Bartter syndrome

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 107

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HGVS	dbSNP	gnomAD frequency
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)	rs59172778	0.00742
NM_000085.5(CLCNKB):c.656-31del	rs751608665	0.00046
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter)	rs137853159	0.00033
NM_001126108.2(SLC12A3):c.2856+1G>T	rs199974259	0.00024
NM_057176.3(BSND):c.139G>A (p.Gly47Arg)	rs74315289	0.00016
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter)	rs121909136	0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	rs759377924	0.00009
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met)	rs202064075	0.00008
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter)	rs370221310	0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)	rs121909132	0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter)	rs201781905	0.00006
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn)	rs137853157	0.00006
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter)	rs201707868	0.00006
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	rs34803727	0.00005
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg)	rs755714542	0.00004
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)	rs121909133	0.00004
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp)	rs777305169	0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)	rs377215024	0.00004
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln)	rs747229048	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_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	rs200320892	0.00004
NM_000085.5(CLCNKB):c.371C>T (p.Pro124Leu)	rs121909131	0.00003
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg)	rs758166864	0.00003
NM_153766.3(KCNJ1):c.155C>T (p.Thr52Met)	rs373367600	0.00003
NM_000085.5(CLCNKB):c.782-2A>G	rs779908241	0.00002
NM_000338.3(SLC12A1):c.3164+1G>A	rs756057922	0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr)	rs121908144	0.00002
NM_057176.3(BSND):c.97G>C (p.Val33Leu)	rs754523289	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_000085.5(CLCNKB):c.1389del (p.Tyr466fs)	rs775637637	0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)	rs370985865	0.00001
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer)	rs779593707	0.00001
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly)	rs1567314296	0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)	rs780619649	0.00001
NM_000338.3(SLC12A1):c.2042+2T>A	rs1400209959	0.00001
NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs)	rs1057520302	0.00001
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter)	rs781209989	0.00001
NM_001126108.2(SLC12A3):c.506-1G>A	rs201555148	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
NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly)	rs753949204	0.00001
GRCh37/hg19 1p32.3(chr1:55464606-55482845)
GRCh37/hg19 1p36.13(chr1:16370960-16383841)
GRCh37/hg19 1p36.13(chr1:16372179-16388605)
KCNJ1, TRP58TER
NC_000001.11:g.(?_16043782)_(16057326_?)del
NM_000085.5(CLCNKB):c.1294T>C (p.Tyr432His)	rs121909135
NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His)
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly)	rs1180658535
NM_000085.5(CLCNKB):c.1381dup (p.Ile461fs)	rs1057516207
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs)	rs1159737562
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter)	rs1570341086
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs)	rs767271426
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer)	rs863224858
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs)	rs953686324
NM_000085.5(CLCNKB):c.619del (p.Val207fs)
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter)	rs1570334344
NM_000085.5:c.(?_-1)_(*1_?)del
NM_000338.2(SLC12A1):c.[1522G>A];[735C>G]
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs)	rs1057520300
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs)	rs779588655
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs)	rs1057520304
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp)	rs1057520301
NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter)
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs)	rs1057519608
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter)	rs1048935147
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs)	rs758961147
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs)	rs1057520303
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter)	rs773855120
NM_000338.3(SLC12A1):c.724+4A>G	rs774515747
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe)	rs137853158
NM_000338.3(SLC12A1):c.[1154_1157dup];[2770C>T]
NM_000339.2:c.(2951+1_2952-1)_(*1_?)del
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_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)	rs776210036
NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys)	rs121909137
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.23G>T (p.Arg8Leu)	rs74315288
NM_057176.3(BSND):c.262G>T (p.Glu88Ter)	rs771232166
NM_057176.3(BSND):c.273-887_*576del
NM_057176.3(BSND):c.28G>A (p.Gly10Ser)	rs74315287
NM_057176.3(BSND):c.452del (p.Pro151fs)	rs765135576
NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter)	rs104894244
NM_153766.3(KCNJ1):c.262A>T (p.Lys88Ter)	rs185212943
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.514A>C (p.Thr172Pro)
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)	rs104894253
NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg)	rs104894245
NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)
NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter)	rs878854404
NM_177433.3(MAGED2):c.1271+4_1271+7del
NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys)	rs878854407
NM_177433.3(MAGED2):c.262C>T (p.Gln88Ter)
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
Single allele

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