ClinVar Miner

List of variants in gene CLCNKB, LOC106501713 studied for Bartter disease type 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000085.5(CLCNKB):c.*37A>C rs10803415 0.90411
NM_000085.5(CLCNKB):c.492G>C (p.Gly164=) rs2014562 0.88578
NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr) rs5253 0.88476
NM_000085.5(CLCNKB):c.642A>C (p.Ala214=) rs1889790 0.82868
NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val) rs7367494 0.82537
NM_000085.5(CLCNKB):c.876T>C (p.Cys292=) rs7368151 0.82518
NM_000085.5(CLCNKB):c.866+35A>T rs59924562 0.82506
NM_000085.5(CLCNKB):c.867-32G>A rs7365182 0.82329
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789 0.81589
NM_000085.5(CLCNKB):c.1930-40A>G rs7517792 0.76354
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu) rs2275166 0.70089
NM_000085.5(CLCNKB):c.498+83C>G rs2863440 0.68735
NM_000085.5(CLCNKB):c.324A>G (p.Ser108=) rs5257 0.68719
NM_000085.5(CLCNKB):c.577-5C>T rs1889788 0.68517
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=) rs2275167 0.64121
NM_000085.5(CLCNKB):c.101-50G>C rs6604910 0.53214
NM_000085.5(CLCNKB):c.1930-37T>A rs7512547 0.30011
NM_000085.5(CLCNKB):c.1570G>A (p.Val524Ile) rs114387880 0.01060
NM_000085.5(CLCNKB):c.310G>A (p.Val104Ile) rs35530360 0.00874
NM_000085.5(CLCNKB):c.782-18A>G rs201540366 0.00547
NM_000085.5(CLCNKB):c.1154A>G (p.Gln385Arg) rs35258749 0.00285
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr) rs189960510 0.00215
NM_000085.5(CLCNKB):c.794C>G (p.Ser265Cys) rs140218299 0.00104
NM_000085.5(CLCNKB):c.1092C>T (p.Asn364=) rs151266668 0.00093
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg) rs144517772 0.00088
NM_000085.5(CLCNKB):c.1227+11T>C rs201479763 0.00073
NM_000085.5(CLCNKB):c.1971T>C (p.Phe657=) rs79198735 0.00072
NM_000085.5(CLCNKB):c.1930-6A>G rs72474563 0.00064
NM_000085.5(CLCNKB):c.968+9C>T rs200650615 0.00061
NM_000085.5(CLCNKB):c.1797G>T (p.Leu599=) rs144157543 0.00056
NM_000085.5(CLCNKB):c.358+20G>A rs199657323 0.00053
NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=) rs146084461 0.00050
NM_000085.5(CLCNKB):c.656-31del rs751608665 0.00046
NM_000085.5(CLCNKB):c.1463C>A (p.Ala488Asp) rs145862077 0.00022
NM_000085.5(CLCNKB):c.2016+19C>T rs575143198 0.00015
NM_000085.5(CLCNKB):c.1080G>A (p.Ser360=) rs140705060 0.00013
NM_000085.5(CLCNKB):c.1689A>G (p.Pro563=) rs185493054 0.00013
NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His) rs765895186 0.00012
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter) rs121909136 0.00009
NM_000085.5(CLCNKB):c.747G>A (p.Met249Ile) rs745782009 0.00009
NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val) rs371971275 0.00008
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met) rs202064075 0.00008
NM_000085.5(CLCNKB):c.1574T>C (p.Ile525Thr) rs553594726 0.00006
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_000085.5(CLCNKB):c.1512G>A (p.Ala504=) rs139304412 0.00005
NM_000085.5(CLCNKB):c.1006G>A (p.Ala336Thr) rs371548242 0.00004
NM_000085.5(CLCNKB):c.1149C>T (p.Asp383=) rs757343183 0.00004
NM_000085.5(CLCNKB):c.1270G>A (p.Gly424Arg) rs769163950 0.00004
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.1630C>T (p.Arg544Cys) rs779196821 0.00004
NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu) rs370019965 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_000085.5(CLCNKB):c.2002G>C (p.Val668Leu) rs375288190 0.00003
NM_000085.5(CLCNKB):c.230C>T (p.Ala77Val) rs146627440 0.00003
NM_000085.5(CLCNKB):c.371C>T (p.Pro124Leu) rs121909131 0.00003
NM_000085.5(CLCNKB):c.782-2A>G rs779908241 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.1612C>T (p.Arg538Cys) rs1400122692 0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000085.5(CLCNKB):c.295T>C (p.Tyr99His) rs779327388 0.00001
NM_000085.5(CLCNKB):c.529G>T (p.Ala177Ser) rs2023168679 0.00001
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) rs779593707 0.00001
NM_000085.5(CLCNKB):c.1026del (p.Ser343fs)
NM_000085.5(CLCNKB):c.1294T>C (p.Tyr432His) rs121909135
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) rs1180658535
NM_000085.5(CLCNKB):c.1381dup (p.Ile461fs) rs1057516207
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) rs1570340095
NM_000085.5(CLCNKB):c.1408G>T (p.Gly470Trp) rs2124102347
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.2017-16C>T rs61769892
NM_000085.5(CLCNKB):c.2017-28G>C rs12746138
NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=) rs6698427
NM_000085.5(CLCNKB):c.209C>A (p.Ala70Asp)
NM_000085.5(CLCNKB):c.230-59G>A rs2014841
NM_000085.5(CLCNKB):c.236A>G (p.Gln79Arg) rs2023105293
NM_000085.5(CLCNKB):c.359-70A>G rs945403
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser) rs1557468183
NM_000085.5(CLCNKB):c.619del (p.Val207fs)
NM_000085.5(CLCNKB):c.641_642delinsGC (p.Ala214Gly) rs71493533
NM_000085.5(CLCNKB):c.652A>C (p.Ser218Arg) rs2124091421
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter) rs1570334344
NM_000085.5(CLCNKB):c.840T>G (p.Pro280=) rs1570335636
NM_000085.5(CLCNKB):c.866+47del rs34589727
NM_000085.5(CLCNKB):c.968+47T>C rs7368166
Single allele

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