ClinVar Miner

List of variants studied for Bartter syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 533
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_000338.3(SLC12A1):c.2296-21A>G rs1484551 0.99047
NM_004070.4(CLCNKA):c.1929+31A>G rs10927893 0.91898
NM_000338.3(SLC12A1):c.*1084A>T rs12438818 0.90572
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_000338.3(SLC12A1):c.*110G>T rs8025278 0.82831
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_000338.3(SLC12A1):c.*284A>G rs12902028 0.82288
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789 0.81589
NM_000085.5(CLCNKB):c.1930-40A>G rs7517792 0.76354
NM_004070.4(CLCNKA):c.1623-57T>C rs2015509 0.70166
NM_004070.4(CLCNKA):c.1846-6T>C rs10803407 0.70157
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_057176.3(BSND):c.-70C>G rs2500341 0.67045
NM_057176.3(BSND):c.-117T>C rs2500340 0.66208
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=) rs2275167 0.64121
NM_004070.4(CLCNKA):c.782-36G>C rs10927889 0.61574
NM_004070.4(CLCNKA):c.1757-13C>G rs6669935 0.60387
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) rs10927887 0.59220
NM_000085.5(CLCNKB):c.101-50G>C rs6604910 0.53214
NM_057176.3(BSND):c.*175C>G rs4339899 0.46025
NM_177433.3(MAGED2):c.396A>G (p.Thr132=) rs1043034 0.44970
NM_057176.3(BSND):c.*24A>C rs6682884 0.43300
NM_177433.3(MAGED2):c.624C>T (p.Ala208=) rs1043044 0.39177
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=) rs6493311 0.37763
NM_177433.3(MAGED2):c.981C>T (p.Ser327=) rs2071932 0.35983
NM_177433.3(MAGED2):c.252A>G (p.Ser84=) rs1043031 0.33668
NM_000085.5(CLCNKB):c.1930-37T>A rs7512547 0.30011
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617 0.18512
NM_057176.3(BSND):c.177+11G>A rs78904893 0.06761
NM_000338.3(SLC12A1):c.-136A>G rs35787656 0.04798
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_057176.3(BSND):c.-241G>A rs12069526 0.04585
NM_000338.3(SLC12A1):c.*126T>C rs7165179 0.03546
NM_000338.3(SLC12A1):c.*101C>A rs55707440 0.02084
NM_000338.3(SLC12A1):c.*300T>C rs78562329 0.01932
NM_057176.3(BSND):c.*94A>G rs80300625 0.01711
NM_000338.3(SLC12A1):c.*158C>T rs7163846 0.01443
NM_004070.4(CLCNKA):c.860C>T (p.Ala287Val) rs200268763 0.01145
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_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_000338.3(SLC12A1):c.2630-7G>A rs34063058 0.00623
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=) rs149563706 0.00576
NM_153766.3(KCNJ1):c.*16G>A rs3181542 0.00566
NM_000085.5(CLCNKB):c.782-18A>G rs201540366 0.00547
NM_000338.3(SLC12A1):c.*1042C>T rs117903818 0.00475
NM_153766.3(KCNJ1):c.*801C>T rs7117664 0.00429
NM_000338.3(SLC12A1):c.2296-6G>T rs34047900 0.00402
NM_177433.3(MAGED2):c.816A>G (p.Pro272=) rs111542041 0.00401
NM_000338.3(SLC12A1):c.1300+12G>A rs147511178 0.00364
NM_004070.4(CLCNKA):c.1612C>T (p.Arg538Cys) rs139564196 0.00359
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745 0.00348
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile) rs138110172 0.00332
NM_057176.3(BSND):c.-25C>T rs188418228 0.00331
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602 0.00328
NM_057176.3(BSND):c.-156G>C rs183925883 0.00313
NM_000085.5(CLCNKB):c.1154A>G (p.Gln385Arg) rs35258749 0.00285
NM_153766.3(KCNJ1):c.*864G>T rs139805663 0.00272
NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr) rs144128875 0.00249
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293 0.00248
NM_153766.3(KCNJ1):c.*507C>T rs142091896 0.00248
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr) rs189960510 0.00215
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) rs34820738 0.00148
NM_000338.3(SLC12A1):c.2199G>A (p.Ala733=) rs150609105 0.00148
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149 0.00136
NM_000338.3(SLC12A1):c.*153T>C rs77852166 0.00134
NM_000338.3(SLC12A1):c.828G>A (p.Val276=) rs3825960 0.00131
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_153766.3(KCNJ1):c.837T>C (p.Asp279=) rs147861417 0.00120
NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val) rs78648980 0.00111
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=) rs145464740 0.00111
NM_057176.3(BSND):c.177+15G>C rs193020037 0.00108
NM_000085.5(CLCNKB):c.794C>G (p.Ser265Cys) rs140218299 0.00104
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258 0.00103
NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=) rs139832082 0.00103
NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val) rs188295259 0.00100
NM_000085.5(CLCNKB):c.1092C>T (p.Asn364=) rs151266668 0.00093
NM_057176.3(BSND):c.527G>A (p.Arg176His) rs143711308 0.00092
NM_153766.3(KCNJ1):c.-21-2121G>A rs147611594 0.00089
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg) rs144517772 0.00088
NM_153766.3(KCNJ1):c.17G>A (p.Arg6Gln) rs139185738 0.00087
NM_000338.3(SLC12A1):c.1560+10G>A rs200934309 0.00082
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486 0.00079
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys) rs138120505 0.00078
NM_000085.5(CLCNKB):c.1227+11T>C rs201479763 0.00073
NM_000338.3(SLC12A1):c.*136G>A rs139328190 0.00073
NM_000085.5(CLCNKB):c.1971T>C (p.Phe657=) rs79198735 0.00072
NM_057176.3(BSND):c.715C>T (p.Gln239Ter) rs147394986 0.00071
NM_153766.3(KCNJ1):c.-21-2138C>T rs34191956 0.00071
NM_000338.3(SLC12A1):c.59G>A (p.Arg20His) rs34661166 0.00070
NM_000338.3(SLC12A1):c.*12T>C rs376778228 0.00067
NM_000085.5(CLCNKB):c.1930-6A>G rs72474563 0.00064
NM_000338.3(SLC12A1):c.3096+7A>T rs200662267 0.00062
NM_000085.5(CLCNKB):c.968+9C>T rs200650615 0.00061
NM_153766.3(KCNJ1):c.-21-2197T>A rs369901110 0.00059
NM_000085.5(CLCNKB):c.1797G>T (p.Leu599=) rs144157543 0.00056
NM_000085.5(CLCNKB):c.358+20G>A rs199657323 0.00053
NM_057176.3(BSND):c.141G>C (p.Gly47=) rs76222905 0.00053
NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=) rs146084461 0.00050
NM_000338.3(SLC12A1):c.*862A>G rs565665101 0.00049
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709 0.00048
NM_000085.5(CLCNKB):c.656-31del rs751608665 0.00046
NM_153766.3(KCNJ1):c.*88G>A rs117795695 0.00043
NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu) rs185212943 0.00043
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_004070.4(CLCNKA):c.1147G>T (p.Asp383Tyr) rs387907405 0.00041
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926 0.00040
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met) rs117535913 0.00039
NM_000338.3(SLC12A1):c.3054G>A (p.Pro1018=) rs201501478 0.00035
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter) rs137853159 0.00033
NM_057176.3(BSND):c.69G>A (p.Thr23=) rs368632305 0.00032
NM_153766.3(KCNJ1):c.798C>A (p.Thr266=) rs139777470 0.00029
NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr) rs138382420 0.00026
NM_153766.3(KCNJ1):c.*964A>G rs535158112 0.00025
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_000085.5(CLCNKB):c.1463C>A (p.Ala488Asp) rs145862077 0.00022
NM_057176.3(BSND):c.237C>T (p.Gly79=) rs528075528 0.00022
NM_153766.3(KCNJ1):c.298A>G (p.Thr100Ala) rs138440917 0.00022
NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser) rs142360465 0.00021
NM_057176.3(BSND):c.635A>G (p.Asn212Ser) rs200071888 0.00021
NM_057176.3(BSND):c.548+10T>C rs369882063 0.00020
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=) rs200417237 0.00019
NM_000338.3(SLC12A1):c.2654C>T (p.Ser885Leu) rs180847164 0.00019
NM_000338.3(SLC12A1):c.724+547C>T rs377680472 0.00019
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_057176.3(BSND):c.9C>T (p.Asp3=) rs141111550 0.00016
NM_000085.5(CLCNKB):c.2016+19C>T rs575143198 0.00015
NM_153766.3(KCNJ1):c.1116G>A (p.Met372Ile) rs141900128 0.00015
NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys) rs370908136 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_057176.3(BSND):c.282C>T (p.Pro94=) rs776609285 0.00014
NM_057176.3(BSND):c.763G>C (p.Glu255Gln) rs148609746 0.00014
NM_153766.3(KCNJ1):c.-21-2167T>C rs200666281 0.00014
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_000338.3(SLC12A1):c.2098A>C (p.Ile700Leu) rs768048553 0.00013
NM_000338.3(SLC12A1):c.2281C>A (p.Arg761=) rs199877869 0.00013
NM_000338.3(SLC12A1):c.381C>T (p.Asn127=) rs370459859 0.00013
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) rs201342416 0.00013
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) rs146313023 0.00013
NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His) rs765895186 0.00012
NM_000338.3(SLC12A1):c.2223G>A (p.Lys741=) rs141643222 0.00012
NM_000338.3(SLC12A1):c.1653T>G (p.Thr551=) rs142886182 0.00011
NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln) rs144177117 0.00011
NM_000338.3(SLC12A1):c.3053C>T (p.Pro1018Leu) rs772354744 0.00011
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_004070.4(CLCNKA):c.867-8C>T rs200325856 0.00011
NM_057176.3(BSND):c.831G>A (p.Glu277=) rs143916830 0.00011
NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly) rs748305494 0.00011
NM_000338.3(SLC12A1):c.*436C>G rs894483558 0.00010
NM_000338.3(SLC12A1):c.724+15A>T rs762041441 0.00010
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) rs202128855 0.00010
NM_153766.3(KCNJ1):c.568C>T (p.Leu190Phe) rs188249669 0.00010
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_000338.3(SLC12A1):c.462C>T (p.Asn154=) rs765175595 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_057176.3(BSND):c.843G>A (p.Ser281=) rs373929319 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_153766.3(KCNJ1):c.1019T>G (p.Leu340Arg) rs201176686 0.00008
NM_000338.3(SLC12A1):c.2106C>T (p.His702=) rs761397379 0.00007
NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln) rs141652885 0.00007
NM_057176.3(BSND):c.225A>G (p.Pro75=) rs755110588 0.00007
NM_153766.3(KCNJ1):c.506G>A (p.Arg169His) rs759992526 0.00007
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_000338.3(SLC12A1):c.*50A>C rs753708701 0.00006
NM_000338.3(SLC12A1):c.1216-13T>A rs200223149 0.00006
NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=) rs140636270 0.00006
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157 0.00006
NM_000338.3(SLC12A1):c.1981G>A (p.Val661Met) rs191148564 0.00006
NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly) rs369637809 0.00006
NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr) rs201516084 0.00006
NM_000338.3(SLC12A1):c.2825G>C (p.Arg942Thr) rs772170109 0.00006
NM_000338.3(SLC12A1):c.2929G>A (p.Gly977Ser) rs372350814 0.00006
NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr) rs116848967 0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter) rs202069201 0.00006
NM_057176.3(BSND):c.*6T>C rs775078862 0.00006
NM_057176.3(BSND):c.842C>T (p.Ser281Leu) rs781101708 0.00006
NM_057176.3(BSND):c.893G>A (p.Gly298Glu) rs180858237 0.00006
NM_153766.3(KCNJ1):c.*737T>C rs907072165 0.00006
NM_153766.3(KCNJ1):c.*83G>A rs998934787 0.00006
NM_153766.3(KCNJ1):c.-21-2258G>A rs886047986 0.00006
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
NM_153766.3(KCNJ1):c.705C>T (p.Asp235=) rs142030262 0.00006
NM_000085.5(CLCNKB):c.1512G>A (p.Ala504=) rs139304412 0.00005
NM_000338.3(SLC12A1):c.-100C>T rs886051211 0.00005
NM_000338.3(SLC12A1):c.2676C>T (p.Asn892=) rs373172332 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_057176.3(BSND):c.673C>T (p.Gln225Ter) rs776107884 0.00005
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) rs199696535 0.00005
NM_057176.3(BSND):c.909C>T (p.Ala303=) rs756452755 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_000338.3(SLC12A1):c.1561-8T>G rs778539276 0.00004
NM_000338.3(SLC12A1):c.1786+18C>T rs750119347 0.00004
NM_000338.3(SLC12A1):c.2028C>T (p.His676=) rs145784441 0.00004
NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro) rs375157909 0.00004
NM_000338.3(SLC12A1):c.394C>T (p.Leu132Phe) rs752324675 0.00004
NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser) rs145003411 0.00004
NM_000338.3(SLC12A1):c.807A>G (p.Ala269=) rs376830687 0.00004
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln) rs747229048 0.00004
NM_057176.3(BSND):c.*15G>A rs777675138 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_057176.3(BSND):c.411G>A (p.Gly137=) rs758111009 0.00004
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892 0.00004
NM_057176.3(BSND):c.744G>A (p.Thr248=) rs754819005 0.00004
NM_153766.3(KCNJ1):c.34C>T (p.Arg12Cys) rs139738175 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 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.52C>T (p.Leu18=) rs759045664 0.00003
NM_000338.3(SLC12A1):c.*40C>T rs763944699 0.00003
NM_000338.3(SLC12A1):c.118A>G (p.Thr40Ala) rs772144467 0.00003
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg) rs758166864 0.00003
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) rs765347751 0.00003
NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=) rs199833808 0.00003
NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile) rs139589325 0.00003
NM_000338.3(SLC12A1):c.513A>C (p.Gln171His) rs942607677 0.00003
NM_000338.3(SLC12A1):c.816T>C (p.Val272=) rs369827965 0.00003
NM_057176.3(BSND):c.-34G>A rs768683733 0.00003
NM_057176.3(BSND):c.126C>T (p.Ser42=) rs138152773 0.00003
NM_057176.3(BSND):c.216C>A (p.Ile72=) rs755897497 0.00003
NM_057176.3(BSND):c.261C>T (p.Ala87=) rs747359694 0.00003
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) rs765579274 0.00003
NM_057176.3(BSND):c.294T>C (p.Tyr98=) rs1188080726 0.00003
NM_057176.3(BSND):c.514G>A (p.Glu172Lys) rs774559680 0.00003
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) rs750027126 0.00003
NM_057176.3(BSND):c.64G>A (p.Gly22Ser) rs145048739 0.00003
NM_057176.3(BSND):c.696G>A (p.Arg232=) rs886046424 0.00003
NM_057176.3(BSND):c.917T>C (p.Leu306Pro) rs139049536 0.00003
NM_153766.3(KCNJ1):c.155C>T (p.Thr52Met) rs373367600 0.00003
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) rs373745258 0.00003
NM_153766.3(KCNJ1):c.626G>A (p.Gly209Glu) rs761781140 0.00003
NM_153766.3(KCNJ1):c.792G>A (p.Ala264=) rs567888166 0.00003
NM_153766.3(KCNJ1):c.842C>T (p.Thr281Ile) rs762988627 0.00003
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter) rs377205432 0.00003
NM_000085.5(CLCNKB):c.782-2A>G rs779908241 0.00002
NM_000085.5(CLCNKB):c.98G>A (p.Arg33Gln) rs746767761 0.00002
NM_000338.3(SLC12A1):c.-113A>C rs546606004 0.00002
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys) rs1486744140 0.00002
NM_000338.3(SLC12A1):c.2507A>T (p.Gln836Leu) rs781250971 0.00002
NM_000338.3(SLC12A1):c.3164+1G>A rs756057922 0.00002
NM_000338.3(SLC12A1):c.421-15A>G rs148912103 0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
NM_057176.3(BSND):c.417G>A (p.Pro139=) rs776717215 0.00002
NM_057176.3(BSND):c.546C>T (p.Pro182=) rs375551000 0.00002
NM_057176.3(BSND):c.97G>C (p.Val33Leu) rs754523289 0.00002
NM_153766.3(KCNJ1):c.*348C>T rs368293891 0.00002
NM_153766.3(KCNJ1):c.-21-2122C>T rs111249880 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.1612C>T (p.Arg538Cys) rs1400122692 0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000085.5(CLCNKB):c.23G>A (p.Arg8His) rs387907411 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_000338.3(SLC12A1):c.-68G>T rs146990469 0.00001
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) rs1567314296 0.00001
NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=) rs769806467 0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000338.3(SLC12A1):c.1652C>T (p.Thr551Ile) rs1186967754 0.00001
NM_000338.3(SLC12A1):c.2042+2T>A rs1400209959 0.00001
NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn) rs528775721 0.00001
NM_000338.3(SLC12A1):c.2195T>A (p.Met732Lys) rs560432597 0.00001
NM_000338.3(SLC12A1):c.2521T>C (p.Leu841=) rs147684303 0.00001
NM_000338.3(SLC12A1):c.2528C>T (p.Ala843Val) rs749753790 0.00001
NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly) rs774989723 0.00001
NM_000338.3(SLC12A1):c.2607T>C (p.Ile869=) rs771458863 0.00001
NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs) rs1057520302 0.00001
NM_000338.3(SLC12A1):c.2852G>A (p.Arg951His) rs537641866 0.00001
NM_000338.3(SLC12A1):c.2854A>C (p.Ile952Leu) rs886051214 0.00001
NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met) rs1300706094 0.00001
NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp) rs1473447476 0.00001
NM_000338.3(SLC12A1):c.434C>A (p.Thr145Asn) rs2041199987 0.00001
NM_000338.3(SLC12A1):c.610G>T (p.Val204Phe) rs1442023118 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_057176.3(BSND):c.*56T>C rs1445213570 0.00001
NM_057176.3(BSND):c.-175C>T rs886046422 0.00001
NM_057176.3(BSND):c.183C>T (p.Thr61=) rs377452238 0.00001
NM_057176.3(BSND):c.288G>A (p.Pro96=) rs752911029 0.00001
NM_057176.3(BSND):c.402del (p.Glu135fs) rs1281690580 0.00001
NM_057176.3(BSND):c.501C>T (p.Gly167=) rs1463073048 0.00001
NM_057176.3(BSND):c.670C>A (p.Pro224Thr) rs1465563174 0.00001
NM_057176.3(BSND):c.713T>A (p.Phe238Tyr) rs752564097 0.00001
NM_057176.3(BSND):c.737C>T (p.Ala246Val) rs926142735 0.00001
NM_057176.3(BSND):c.915C>A (p.Asp305Glu) rs1456638401 0.00001
NM_153766.3(KCNJ1):c.*382G>A rs528451227 0.00001
NM_153766.3(KCNJ1):c.*553C>T rs529944463 0.00001
NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys) rs387907439 0.00001
NM_153766.3(KCNJ1):c.35G>A (p.Arg12His) rs566704910 0.00001
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu) rs104894254 0.00001
NM_153766.3(KCNJ1):c.550C>T (p.Arg184Trp) rs779864905 0.00001
NM_153766.3(KCNJ1):c.706G>A (p.Ala236Thr) rs147621487 0.00001
NM_153766.3(KCNJ1):c.732C>T (p.Ile244=) rs886047985 0.00001
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) rs746509804 0.00001
NM_153766.3(KCNJ1):c.87G>A (p.Arg29=) rs909572402 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.1026del (p.Ser343fs)
NM_000085.5(CLCNKB):c.1294T>C (p.Tyr432His) rs121909135
NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His)
NM_000085.5(CLCNKB):c.1324G>A (p.Glu442Lys)
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.18dup (p.Leu7fs) rs953686324
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.80G>T (p.Arg27Leu) rs2015352
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
NM_000085.5:c.(?_-1)_(*1_?)del
NM_000338.2(SLC12A1):c.[1522G>A];[735C>G]
NM_000338.3(SLC12A1):c.*1179A>T rs886051218
NM_000338.3(SLC12A1):c.*216A>C rs2042253972
NM_000338.3(SLC12A1):c.*496C>T rs2042256118
NM_000338.3(SLC12A1):c.*590T>C rs886051216
NM_000338.3(SLC12A1):c.*593A>G rs2042256892
NM_000338.3(SLC12A1):c.*629G>A rs2042257197
NM_000338.3(SLC12A1):c.*921T>C rs886051217
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs) rs1057520300
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_000338.3(SLC12A1):c.1166C>T (p.Pro389Leu)
NM_000338.3(SLC12A1):c.1265C>T (p.Thr422Ile) rs886051212
NM_000338.3(SLC12A1):c.1300+5G>A rs894215559
NM_000338.3(SLC12A1):c.1307G>A (p.Cys436Tyr)
NM_000338.3(SLC12A1):c.1355G>C (p.Gly452Ala) rs1036163503
NM_000338.3(SLC12A1):c.1468T>G (p.Ser490Ala) rs2041588755
NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=) rs371242796
NM_000338.3(SLC12A1):c.1511C>T (p.Thr504Ile)
NM_000338.3(SLC12A1):c.1610G>C (p.Gly537Ala)
NM_000338.3(SLC12A1):c.1679T>C (p.Leu560Pro) rs1370120380
NM_000338.3(SLC12A1):c.1684+1G>A
NM_000338.3(SLC12A1):c.1685-2A>G
NM_000338.3(SLC12A1):c.1757G>A (p.Cys586Tyr)
NM_000338.3(SLC12A1):c.1832_1833del (p.Phe611fs) rs1057520304
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) rs1057520304
NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg) rs2041650191
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp) rs1057520301
NM_000338.3(SLC12A1):c.1903G>A (p.Glu635Lys) rs2041651233
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe) rs563102186
NM_000338.3(SLC12A1):c.1927del (p.Thr643fs) rs2141064916
NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter)
NM_000338.3(SLC12A1):c.1970C>T (p.Ala657Val) rs2041701051
NM_000338.3(SLC12A1):c.2066G>A (p.Gly689Glu)
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) rs143141941
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs) rs1057519608
NM_000338.3(SLC12A1):c.2155-10T>A rs762650284
NM_000338.3(SLC12A1):c.2206C>A (p.Gln736Lys) rs1175659978
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter) rs1048935147
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) rs758961147
NM_000338.3(SLC12A1):c.2272G>C (p.Asp758His) rs1356365433
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) rs201516084
NM_000338.3(SLC12A1):c.2456T>C (p.Phe819Ser)
NM_000338.3(SLC12A1):c.2468A>C (p.Gln823Pro) rs752454522
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs) rs1057520303
NM_000338.3(SLC12A1):c.2573G>T (p.Arg858Leu) rs140747686
NM_000338.3(SLC12A1):c.2669A>G (p.Glu890Gly)
NM_000338.3(SLC12A1):c.2719delinsCA (p.Glu907fs)
NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter)
NM_000338.3(SLC12A1):c.2781C>G (p.Pro927=) rs886051213
NM_000338.3(SLC12A1):c.2785A>G (p.Ile929Val) rs2042082680
NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs) rs776749406
NM_000338.3(SLC12A1):c.2810A>G (p.Lys937Arg)
NM_000338.3(SLC12A1):c.2834_2873+12del rs1566857461
NM_000338.3(SLC12A1):c.2953A>G (p.Lys985Glu) rs1254425688
NM_000338.3(SLC12A1):c.2979G>A (p.Glu993=) rs886051215
NM_000338.3(SLC12A1):c.3003T>A (p.His1001Gln)
NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser) rs746030141
NM_000338.3(SLC12A1):c.3165-5A>T rs767198562
NM_000338.3(SLC12A1):c.3256C>A (p.Leu1086Ile) rs770328592
NM_000338.3(SLC12A1):c.355G>A (p.Gly119Ser) rs747096443
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter) rs773855120
NM_000338.3(SLC12A1):c.421-1G>A
NM_000338.3(SLC12A1):c.572T>A (p.Ile191Asn)
NM_000338.3(SLC12A1):c.595C>G (p.Arg199Gly)
NM_000338.3(SLC12A1):c.716T>C (p.Val239Ala) rs2041289926
NM_000338.3(SLC12A1):c.724+4A>G rs774515747
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala) rs367562995
NM_000338.3(SLC12A1):c.760C>T (p.Pro254Ser) rs367562995
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe) rs137853158
NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_000338.3(SLC12A1):c.975+1G>A
NM_000338.3(SLC12A1):c.[1154_1157dup];[2770C>T]
NM_000339.2:c.(2951+1_2952-1)_(*1_?)del
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) rs2107627458
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) rs1453953571
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000388.4(CASR):c.2710G>C (p.Gly904Arg) rs2074943924
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) rs1244383237
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.494T>G (p.Val165Gly) rs1559958757
NM_000388.4(CASR):c.85A>G (p.Lys29Glu) rs397514729
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter) rs776210036
NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser) rs2055210264
NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys) rs777612082
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly) rs1451284628
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs) rs750710315
NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile) rs1424832490
NM_001126108.2(SLC12A3):c.427A>G (p.Met143Val) rs1964378547
NM_004070.4(CLCNKA):c.1339G>A (p.Ala447Thr) rs1805152
NM_004070.4(CLCNKA):c.1408+13C>T rs3737218
NM_004070.4(CLCNKA):c.1425_1426del (p.Ala477fs)
NM_004070.4(CLCNKA):c.1613G>C (p.Arg538Pro) rs762119830
NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu) rs773206825
NM_004070.4(CLCNKA):c.1885G>T (p.Glu629Ter)
NM_004070.4(CLCNKA):c.1929+30C>A rs10927892
NM_004070.4(CLCNKA):c.1972G>A (p.Val658Met)
NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys) rs121909137
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
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.214A>T (p.Ile72Phe) rs1644382614
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.272+1G>T rs1007109925
NM_057176.3(BSND):c.273-887_*576del
NM_057176.3(BSND):c.27C>T (p.Ile9=) rs371937424
NM_057176.3(BSND):c.28G>A (p.Gly10Ser) rs74315287
NM_057176.3(BSND):c.306G>T (p.Trp102Cys) rs1644394690
NM_057176.3(BSND):c.393G>A (p.Leu131=) rs201387711
NM_057176.3(BSND):c.393G>T (p.Leu131Phe) rs201387711
NM_057176.3(BSND):c.409G>C (p.Gly137Arg) rs749600956
NM_057176.3(BSND):c.452del (p.Pro151fs) rs765135576
NM_057176.3(BSND):c.467C>A (p.Ala156Asp) rs1644395855
NM_057176.3(BSND):c.52C>G (p.Leu18Val) rs754403589
NM_057176.3(BSND):c.572C>T (p.Pro191Leu) rs1184835309
NM_057176.3(BSND):c.604G>A (p.Asp202Asn) rs886046423
NM_057176.3(BSND):c.64G>C (p.Gly22Arg) rs145048739
NM_057176.3(BSND):c.758C>T (p.Pro253Leu) rs1644403055
NM_057176.3(BSND):c.810C>T (p.Tyr270=) rs1451582678
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896
NM_057176.3(BSND):c.868A>G (p.Lys290Glu) rs1285206495
NM_153766.3(KCNJ1):c.*1C>G
NM_153766.3(KCNJ1):c.*452G>A rs886047984
NM_153766.3(KCNJ1):c.*968T>A rs565893144
NM_153766.3(KCNJ1):c.-9A>G
NM_153766.3(KCNJ1):c.1001del (p.Pro334fs) rs768286324
NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter)
NM_153766.3(KCNJ1):c.156G>C (p.Thr52=) rs141393013
NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter) rs104894244
NM_153766.3(KCNJ1):c.215G>C (p.Ser72Thr)
NM_153766.3(KCNJ1):c.241T>C (p.Tyr81His)
NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val)
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.27C>T (p.Val9=) rs759301135
NM_153766.3(KCNJ1):c.302C>T (p.Pro101Leu)
NM_153766.3(KCNJ1):c.315T>A (p.Asn105Lys) rs104894251
NM_153766.3(KCNJ1):c.361G>A (p.Val121Met)
NM_153766.3(KCNJ1):c.42dup (p.Gly15fs) rs2135941091
NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr)
NM_153766.3(KCNJ1):c.504del (p.Lys168fs) rs769554073
NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser) rs138120505
NM_153766.3(KCNJ1):c.513G>T (p.Lys171Asn)
NM_153766.3(KCNJ1):c.514A>C (p.Thr172Pro)
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr) rs104894253
NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln) rs1380025163
NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro) rs150299230
NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg) rs104894245
NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg) rs1411280373
NM_153766.3(KCNJ1):c.6_55del (p.Phe2fs)
NM_153766.3(KCNJ1):c.798C>T (p.Thr266=) rs139777470
NM_153766.3(KCNJ1):c.80A>G (p.Asp27Gly)
NM_153766.3(KCNJ1):c.842C>G (p.Thr281Arg) rs762988627
NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)
NM_153766.3(KCNJ1):c.923C>T (p.Pro308Leu) rs746292586
NM_153766.3(KCNJ1):c.946G>A (p.Gly316Arg) rs1943225988
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.1386+1G>A
NM_177433.3(MAGED2):c.1425C>G (p.Tyr475Ter)
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.968G>A (p.Arg323Gln)
NM_177433.3(MAGED2):c.990G>A (p.Lys330=)
NM_177433.3(MAGED2):c.991-2A>G rs878854405
Single allele

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