ClinVar Miner

List of variants in gene SLC12A6 reported as uncertain significance

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 445
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.*2516T>C rs199752906 0.05244
NM_001365088.1(SLC12A6):c.*2293G>A rs200579522 0.01153
NM_001365088.1(SLC12A6):c.*2289_*2293del rs886051041 0.00864
NM_001365088.1(SLC12A6):c.*2852T>C rs117020610 0.00737
NM_001365088.1(SLC12A6):c.*2289G>A rs113459768 0.00511
NM_001365088.1(SLC12A6):c.*2261G>A rs181064062 0.00391
NM_001365088.1(SLC12A6):c.271+17825C>T rs150751809 0.00276
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.*203T>C rs547741348 0.00185
NM_001365088.1(SLC12A6):c.*639A>G rs553037996 0.00083
NM_001365088.1(SLC12A6):c.*244G>A rs183696226 0.00063
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
NM_001365088.1(SLC12A6):c.*2516_*2517insTC rs538475109 0.00049
NM_001365088.1(SLC12A6):c.*2301G>T rs528941290 0.00047
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser) rs199945338 0.00034
NM_001365088.1(SLC12A6):c.*1249C>T rs765365636 0.00031
NM_001365088.1(SLC12A6):c.*2129T>C rs535022392 0.00029
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001365088.1(SLC12A6):c.*2731G>A rs531551756 0.00027
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001365088.1(SLC12A6):c.1943+15T>C rs200544602 0.00020
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=) rs142496698 0.00020
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp) rs370477960 0.00019
NM_001365088.1(SLC12A6):c.*474C>T rs532826858 0.00018
NM_001365088.1(SLC12A6):c.*691C>T rs753038190 0.00016
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His) rs375887656 0.00016
NM_001365088.1(SLC12A6):c.*3497C>T rs886051037 0.00014
NM_001365088.1(SLC12A6):c.2934+3G>A rs747032924 0.00014
NM_001365088.1(SLC12A6):c.*1493G>A rs773469501 0.00013
NM_001365088.1(SLC12A6):c.*2346C>T rs188296648 0.00013
NM_001365088.1(SLC12A6):c.*751T>C rs779634707 0.00013
NM_001365088.1(SLC12A6):c.*94G>C rs117540484 0.00012
NM_001365088.1(SLC12A6):c.*2088C>T rs886051043 0.00010
NM_001365088.1(SLC12A6):c.*3580G>T rs549855456 0.00010
NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu) rs373526599 0.00010
NM_001365088.1(SLC12A6):c.293C>A (p.Thr98Lys) rs143956604 0.00010
NM_001365088.1(SLC12A6):c.*456A>C rs187535372 0.00009
NM_001365088.1(SLC12A6):c.*1201T>C rs886051050 0.00008
NM_001365088.1(SLC12A6):c.*2404C>T rs138724264 0.00008
NM_001365088.1(SLC12A6):c.3043-3C>G rs368682142 0.00008
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser) rs778821191 0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001365088.1(SLC12A6):c.2803-3C>G rs369901701 0.00007
NM_001365088.1(SLC12A6):c.*2899A>T rs76780516 0.00006
NM_001365088.1(SLC12A6):c.*762C>T rs562472403 0.00006
NM_001365088.1(SLC12A6):c.1369A>T (p.Ile457Phe) rs751420584 0.00006
NM_001365088.1(SLC12A6):c.1663G>A (p.Val555Met) rs140635276 0.00006
NM_001365088.1(SLC12A6):c.1778G>A (p.Arg593Lys) rs779664776 0.00006
NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln) rs371696267 0.00006
NM_001365088.1(SLC12A6):c.381A>G (p.Glu127=) rs567323663 0.00006
NM_001365088.1(SLC12A6):c.176C>G (p.Pro59Arg) rs777459849 0.00005
NM_001365088.1(SLC12A6):c.*2754G>A rs949366523 0.00004
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=) rs770742608 0.00004
NM_001365088.1(SLC12A6):c.1484C>G (p.Ser495Cys) rs373077646 0.00004
NM_001365088.1(SLC12A6):c.148A>C (p.Ser50Arg) rs746317063 0.00004
NM_001365088.1(SLC12A6):c.2412C>T (p.Tyr804=) rs773206972 0.00004
NM_001365088.1(SLC12A6):c.3228-15T>C rs376575991 0.00004
NM_001365088.1(SLC12A6):c.47T>C (p.Met16Thr) rs746665611 0.00004
NM_001365088.1(SLC12A6):c.885C>T (p.Ile295=) rs146726039 0.00004
NM_001365088.1(SLC12A6):c.958G>A (p.Val320Ile) rs752427635 0.00004
NM_001365088.1(SLC12A6):c.*1568G>A rs886051047 0.00003
NM_001365088.1(SLC12A6):c.*1627T>C rs886051046 0.00003
NM_001365088.1(SLC12A6):c.*2220A>G rs886051042 0.00003
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=) rs35855196 0.00003
NM_001365088.1(SLC12A6):c.1242A>G (p.Gln414=) rs1464322097 0.00003
NM_001365088.1(SLC12A6):c.1375G>A (p.Glu459Lys) rs772725042 0.00003
NM_001365088.1(SLC12A6):c.2003G>A (p.Arg668Gln) rs779359867 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365088.1(SLC12A6):c.316+2dup rs778694021 0.00003
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229 0.00003
NM_001365088.1(SLC12A6):c.455G>A (p.Arg152His) rs200361670 0.00003
NM_001365088.1(SLC12A6):c.*1149C>G rs1420791026 0.00002
NM_001365088.1(SLC12A6):c.*2017T>A rs1348991725 0.00002
NM_001365088.1(SLC12A6):c.*2029T>C rs1053131287 0.00002
NM_001365088.1(SLC12A6):c.*707G>A rs886051052 0.00002
NM_001365088.1(SLC12A6):c.168G>A (p.Arg56=) rs886051056 0.00002
NM_001365088.1(SLC12A6):c.1998A>G (p.Leu666=) rs761707485 0.00002
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.271+17774G>C rs757242571 0.00002
NM_001365088.1(SLC12A6):c.2935-11G>C rs770370694 0.00002
NM_001365088.1(SLC12A6):c.294A>G (p.Thr98=) rs1894230939 0.00002
NM_001365088.1(SLC12A6):c.3427A>G (p.Ser1143Gly) rs1322848611 0.00002
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=) rs774081365 0.00002
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=) rs753466496 0.00002
NM_001365088.1(SLC12A6):c.955C>T (p.Arg319Cys) rs755778625 0.00002
NM_001365088.1(SLC12A6):c.*1234A>G rs886051048 0.00001
NM_001365088.1(SLC12A6):c.*1815C>T rs886051045 0.00001
NM_001365088.1(SLC12A6):c.*2311A>G rs1890932964 0.00001
NM_001365088.1(SLC12A6):c.*2342C>T rs1352055490 0.00001
NM_001365088.1(SLC12A6):c.*3482C>G rs1019970553 0.00001
NM_001365088.1(SLC12A6):c.*461G>A rs1891061242 0.00001
NM_001365088.1(SLC12A6):c.-9A>G rs760840867 0.00001
NM_001365088.1(SLC12A6):c.1013G>A (p.Arg338His) rs769714833 0.00001
NM_001365088.1(SLC12A6):c.1036C>G (p.Leu346Val) rs1374588070 0.00001
NM_001365088.1(SLC12A6):c.1065C>G (p.Ile355Met) rs1229903219 0.00001
NM_001365088.1(SLC12A6):c.1079C>G (p.Ala360Gly) rs1386170769 0.00001
NM_001365088.1(SLC12A6):c.1109C>T (p.Pro370Leu) rs774246639 0.00001
NM_001365088.1(SLC12A6):c.1118+4C>T rs773294017 0.00001
NM_001365088.1(SLC12A6):c.1260T>C (p.Cys420=) rs1226622652 0.00001
NM_001365088.1(SLC12A6):c.1410C>T (p.Gly470=) rs772765619 0.00001
NM_001365088.1(SLC12A6):c.142C>T (p.Arg48Trp) rs1306630198 0.00001
NM_001365088.1(SLC12A6):c.1457C>T (p.Thr486Met) rs748315324 0.00001
NM_001365088.1(SLC12A6):c.1614T>G (p.Phe538Leu) rs1057520062 0.00001
NM_001365088.1(SLC12A6):c.1671T>A (p.Gly557=) rs757602343 0.00001
NM_001365088.1(SLC12A6):c.1688C>T (p.Thr563Ile) rs970501910 0.00001
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=) rs764272139 0.00001
NM_001365088.1(SLC12A6):c.1826T>C (p.Val609Ala) rs747694318 0.00001
NM_001365088.1(SLC12A6):c.1933A>G (p.Ile645Val) rs572342330 0.00001
NM_001365088.1(SLC12A6):c.2042G>C (p.Trp681Ser) rs1891819836 0.00001
NM_001365088.1(SLC12A6):c.206C>G (p.Ser69Trp) rs1018860694 0.00001
NM_001365088.1(SLC12A6):c.2109C>T (p.Ala703=) rs928370333 0.00001
NM_001365088.1(SLC12A6):c.2323C>T (p.Arg775Cys) rs753271582 0.00001
NM_001365088.1(SLC12A6):c.240C>T (p.Asp80=) rs201684992 0.00001
NM_001365088.1(SLC12A6):c.2732T>C (p.Ile911Thr) rs772527464 0.00001
NM_001365088.1(SLC12A6):c.2961T>G (p.Thr987=) rs747237563 0.00001
NM_001365088.1(SLC12A6):c.3109G>A (p.Glu1037Lys) rs775973016 0.00001
NM_001365088.1(SLC12A6):c.326A>G (p.His109Arg) rs764672829 0.00001
NM_001365088.1(SLC12A6):c.3G>A (p.Met1Ile) rs759559343 0.00001
NM_001365088.1(SLC12A6):c.483A>T (p.Gln161His) rs1316809325 0.00001
NM_001365088.1(SLC12A6):c.524G>A (p.Gly175Glu) rs764119511 0.00001
NM_001365088.1(SLC12A6):c.546C>T (p.Thr182=) rs775527538 0.00001
NM_001365088.1(SLC12A6):c.727A>T (p.Thr243Ser) rs1410645913 0.00001
NM_001365088.1(SLC12A6):c.73A>G (p.Ile25Val) rs1370247909 0.00001
NM_001365088.1(SLC12A6):c.877G>T (p.Val293Phe) rs1466259736 0.00001
NM_001365088.1(SLC12A6):c.940A>T (p.Met314Leu) rs34491959 0.00001
NM_001365088.1(SLC12A6):c.953T>C (p.Met318Thr) rs777759928 0.00001
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser) rs75235010 0.00001
NM_001365088.1(SLC12A6):c.97C>G (p.Pro33Ala) rs767685808 0.00001
NC_000015.9:g.(?_34526082)_(34527535_?)dup
NM_001365088.1(SLC12A6):c.*1211T>C rs886051049
NM_001365088.1(SLC12A6):c.*1607G>T rs1891000195
NM_001365088.1(SLC12A6):c.*171C>G rs746999362
NM_001365088.1(SLC12A6):c.*2039C>T rs886051044
NM_001365088.1(SLC12A6):c.*2127A>C rs931619573
NM_001365088.1(SLC12A6):c.*2139T>C rs1890960167
NM_001365088.1(SLC12A6):c.*2289GAAA[3] rs148811864
NM_001365088.1(SLC12A6):c.*2289_*2291del rs748613902
NM_001365088.1(SLC12A6):c.*2289_*2294del rs377402786
NM_001365088.1(SLC12A6):c.*2358_*2360del rs547947247
NM_001365088.1(SLC12A6):c.*2660C>G rs1890901344
NM_001365088.1(SLC12A6):c.*2684A>G rs886051040
NM_001365088.1(SLC12A6):c.*277A>G rs892177326
NM_001365088.1(SLC12A6):c.*2829G>A rs1181571458
NM_001365088.1(SLC12A6):c.*2909del rs886051039
NM_001365088.1(SLC12A6):c.*3162T>G rs886051038
NM_001365088.1(SLC12A6):c.*3219G>A rs1213035416
NM_001365088.1(SLC12A6):c.*3309del rs566619994
NM_001365088.1(SLC12A6):c.*3520C>G rs886051036
NM_001365088.1(SLC12A6):c.*38A>C rs969900949
NM_001365088.1(SLC12A6):c.*626T>G rs912650390
NM_001365088.1(SLC12A6):c.*695C>G rs886051053
NM_001365088.1(SLC12A6):c.*719dup rs775648289
NM_001365088.1(SLC12A6):c.*826C>T rs886051051
NM_001365088.1(SLC12A6):c.*876G>A rs185668908
NM_001365088.1(SLC12A6):c.*879C>T rs1290930021
NM_001365088.1(SLC12A6):c.*906G>C rs879186866
NM_001365088.1(SLC12A6):c.*912A>C rs1420495773
NM_001365088.1(SLC12A6):c.*918G>C rs888346162
NM_001365088.1(SLC12A6):c.*987G>A rs1769944086
NM_001365088.1(SLC12A6):c.-26C>G rs886051057
NM_001365088.1(SLC12A6):c.1006G>A (p.Gly336Ser) rs200994998
NM_001365088.1(SLC12A6):c.1009G>A (p.Val337Ile)
NM_001365088.1(SLC12A6):c.1020G>A (p.Val340=)
NM_001365088.1(SLC12A6):c.1024A>G (p.Lys342Glu)
NM_001365088.1(SLC12A6):c.1025A>G (p.Lys342Arg)
NM_001365088.1(SLC12A6):c.103C>T (p.Leu35Phe) rs1454226326
NM_001365088.1(SLC12A6):c.1043T>C (p.Leu348Pro)
NM_001365088.1(SLC12A6):c.1063A>C (p.Ile355Leu)
NM_001365088.1(SLC12A6):c.1069G>A (p.Ala357Thr)
NM_001365088.1(SLC12A6):c.1076A>G (p.Tyr359Cys)
NM_001365088.1(SLC12A6):c.107G>A (p.Ser36Asn) rs2141212975
NM_001365088.1(SLC12A6):c.1091A>C (p.Lys364Thr) rs200485502
NM_001365088.1(SLC12A6):c.1094CTT[1] (p.Ser366del) rs779390859
NM_001365088.1(SLC12A6):c.1099T>G (p.Phe367Val) rs767723184
NM_001365088.1(SLC12A6):c.1100T>C (p.Phe367Ser) rs2140717533
NM_001365088.1(SLC12A6):c.1101T>G (p.Phe367Leu)
NM_001365088.1(SLC12A6):c.1109C>A (p.Pro370Gln)
NM_001365088.1(SLC12A6):c.1116C>A (p.Phe372Leu)
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1118+4C>A
NM_001365088.1(SLC12A6):c.1118+5G>A
NM_001365088.1(SLC12A6):c.1118C>G (p.Pro373Arg)
NM_001365088.1(SLC12A6):c.1118C>T (p.Pro373Leu)
NM_001365088.1(SLC12A6):c.1120G>T (p.Val374Phe)
NM_001365088.1(SLC12A6):c.1128G>T (p.Met376Ile) rs2140737459
NM_001365088.1(SLC12A6):c.1138C>T (p.Arg380Cys)
NM_001365088.1(SLC12A6):c.113G>A (p.Arg38Gln)
NM_001365088.1(SLC12A6):c.1147TCA[1] (p.Ser384del) rs1892450807
NM_001365088.1(SLC12A6):c.1159A>G (p.Ile387Val) rs781345440
NM_001365088.1(SLC12A6):c.1165G>A (p.Val389Ile)
NM_001365088.1(SLC12A6):c.1172C>G (p.Ser391Cys)
NM_001365088.1(SLC12A6):c.1199C>T (p.Thr400Ile) rs1892447285
NM_001365088.1(SLC12A6):c.1216T>C (p.Trp406Arg)
NM_001365088.1(SLC12A6):c.1217G>T (p.Trp406Leu)
NM_001365088.1(SLC12A6):c.1217_1218delinsTC (p.Trp406Phe)
NM_001365088.1(SLC12A6):c.1218G>C (p.Trp406Cys)
NM_001365088.1(SLC12A6):c.1219G>A (p.Gly407Arg) rs745569165
NM_001365088.1(SLC12A6):c.1220G>T (p.Gly407Val)
NM_001365088.1(SLC12A6):c.1227C>A (p.Phe409Leu)
NM_001365088.1(SLC12A6):c.1231A>T (p.Asn411Tyr)
NM_001365088.1(SLC12A6):c.1235C>T (p.Ser412Leu)
NM_001365088.1(SLC12A6):c.1238G>A (p.Ser413Asn)
NM_001365088.1(SLC12A6):c.124C>G (p.Arg42Gly)
NM_001365088.1(SLC12A6):c.1274T>A (p.Val425Asp)
NM_001365088.1(SLC12A6):c.1280A>G (p.Asn427Ser)
NM_001365088.1(SLC12A6):c.1292C>T (p.Ser431Leu)
NM_001365088.1(SLC12A6):c.1301G>C (p.Gly434Ala) rs2140735892
NM_001365088.1(SLC12A6):c.1307C>T (p.Pro436Leu)
NM_001365088.1(SLC12A6):c.1318A>G (p.Ser440Gly) rs1892438412
NM_001365088.1(SLC12A6):c.1319G>C (p.Ser440Thr) rs1448474208
NM_001365088.1(SLC12A6):c.1322G>A (p.Gly441Asp) rs1192661841
NM_001365088.1(SLC12A6):c.1322G>T (p.Gly441Val) rs1192661841
NM_001365088.1(SLC12A6):c.1324A>G (p.Ile442Val)
NM_001365088.1(SLC12A6):c.1373T>C (p.Ile458Thr)
NM_001365088.1(SLC12A6):c.137G>A (p.Ser46Asn)
NM_001365088.1(SLC12A6):c.1381C>G (p.Pro461Ala) rs1892350716
NM_001365088.1(SLC12A6):c.1408G>C (p.Gly470Arg) rs2140728706
NM_001365088.1(SLC12A6):c.1409G>T (p.Gly470Val) rs886051054
NM_001365088.1(SLC12A6):c.1411A>C (p.Ser471Arg)
NM_001365088.1(SLC12A6):c.1423G>A (p.Glu475Lys)
NM_001365088.1(SLC12A6):c.1459C>A (p.Leu487Ile)
NM_001365088.1(SLC12A6):c.1465G>A (p.Val489Met)
NM_001365088.1(SLC12A6):c.1492+9A>G rs1566811997
NM_001365088.1(SLC12A6):c.1494_1499del (p.Ile499_Met500del) rs1555379651
NM_001365088.1(SLC12A6):c.14A>G (p.Glu5Gly) rs770783522
NM_001365088.1(SLC12A6):c.1517C>G (p.Ser506Cys) rs2140726785
NM_001365088.1(SLC12A6):c.1525C>A (p.Leu509Met)
NM_001365088.1(SLC12A6):c.1549C>A (p.Pro517Thr)
NM_001365088.1(SLC12A6):c.1550C>T (p.Pro517Leu)
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=) rs17236798
NM_001365088.1(SLC12A6):c.1575_1577dup (p.Thr527dup) rs1342378279
NM_001365088.1(SLC12A6):c.1576A>G (p.Thr526Ala) rs1555379629
NM_001365088.1(SLC12A6):c.1577C>T (p.Thr526Ile)
NM_001365088.1(SLC12A6):c.157G>C (p.Glu53Gln) rs2141212637
NM_001365088.1(SLC12A6):c.1598G>A (p.Ser533Asn)
NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp) rs1595430425
NM_001365088.1(SLC12A6):c.161C>G (p.Thr54Arg)
NM_001365088.1(SLC12A6):c.1625T>C (p.Ile542Thr) rs958786620
NM_001365088.1(SLC12A6):c.1630G>T (p.Gly544Trp)
NM_001365088.1(SLC12A6):c.1648A>G (p.Lys550Glu)
NM_001365088.1(SLC12A6):c.1650-7T>C rs752125669
NM_001365088.1(SLC12A6):c.1669G>C (p.Gly557Arg) rs2140693680
NM_001365088.1(SLC12A6):c.166C>G (p.Arg56Gly)
NM_001365088.1(SLC12A6):c.1682T>C (p.Val561Ala)
NM_001365088.1(SLC12A6):c.1708T>C (p.Trp570Arg)
NM_001365088.1(SLC12A6):c.1721T>C (p.Ile574Thr)
NM_001365088.1(SLC12A6):c.1726T>G (p.Ser576Ala)
NM_001365088.1(SLC12A6):c.1727C>T (p.Ser576Phe) rs1244030823
NM_001365088.1(SLC12A6):c.1728CTT[1] (p.Phe578del)
NM_001365088.1(SLC12A6):c.1747G>T (p.Ala583Ser)
NM_001365088.1(SLC12A6):c.1749T>C (p.Ala583=) rs1891939939
NM_001365088.1(SLC12A6):c.1760G>A (p.Ser587Asn)
NM_001365088.1(SLC12A6):c.179T>G (p.Met60Arg) rs1555392885
NM_001365088.1(SLC12A6):c.17CCA[2] (p.Thr8del) rs768255547
NM_001365088.1(SLC12A6):c.1814C>T (p.Pro605Leu)
NM_001365088.1(SLC12A6):c.1837A>T (p.Ser613Cys)
NM_001365088.1(SLC12A6):c.1843G>C (p.Ala615Pro)
NM_001365088.1(SLC12A6):c.1847A>G (p.Asn616Ser) rs201468351
NM_001365088.1(SLC12A6):c.1856C>A (p.Pro619His)
NM_001365088.1(SLC12A6):c.1909G>T (p.Ala637Ser) rs2140689487
NM_001365088.1(SLC12A6):c.1910C>T (p.Ala637Val) rs2140689472
NM_001365088.1(SLC12A6):c.1922T>C (p.Leu641Pro)
NM_001365088.1(SLC12A6):c.1926G>A (p.Val642=) rs2140689385
NM_001365088.1(SLC12A6):c.1939T>C (p.Ser647Pro) rs879253966
NM_001365088.1(SLC12A6):c.1944-10del rs769896374
NM_001365088.1(SLC12A6):c.1956G>T (p.Met652Ile)
NM_001365088.1(SLC12A6):c.1960T>A (p.Tyr654Asn)
NM_001365088.1(SLC12A6):c.1970del (p.Val657fs) rs1555378419
NM_001365088.1(SLC12A6):c.197C>T (p.Ala66Val)
NM_001365088.1(SLC12A6):c.199A>G (p.Thr67Ala)
NM_001365088.1(SLC12A6):c.1A>G (p.Met1Val) rs1295560007
NM_001365088.1(SLC12A6):c.2012A>G (p.Asn671Ser)
NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs) rs1595415679
NM_001365088.1(SLC12A6):c.2029C>G (p.Arg677Gly)
NM_001365088.1(SLC12A6):c.2030G>A (p.Arg677His)
NM_001365088.1(SLC12A6):c.2033A>G (p.Tyr678Cys) rs1566806106
NM_001365088.1(SLC12A6):c.2042+4A>G
NM_001365088.1(SLC12A6):c.2057T>A (p.Met686Lys)
NM_001365088.1(SLC12A6):c.2075T>G (p.Leu692Arg) rs1595411684
NM_001365088.1(SLC12A6):c.2110A>G (p.Ile704Val) rs748542923
NM_001365088.1(SLC12A6):c.2122G>C (p.Val708Leu)
NM_001365088.1(SLC12A6):c.2134A>G (p.Met712Val)
NM_001365088.1(SLC12A6):c.2144A>G (p.Lys715Arg)
NM_001365088.1(SLC12A6):c.214A>G (p.Thr72Ala)
NM_001365088.1(SLC12A6):c.2163-14del rs771321354
NM_001365088.1(SLC12A6):c.2163A>C (p.Gly721=)
NM_001365088.1(SLC12A6):c.2207G>C (p.Ser736Thr)
NM_001365088.1(SLC12A6):c.2215C>T (p.Arg739Trp)
NM_001365088.1(SLC12A6):c.2231G>A (p.Arg744Gln)
NM_001365088.1(SLC12A6):c.2267+6G>T rs1205721914
NM_001365088.1(SLC12A6):c.2293C>G (p.Leu765Val) rs779541247
NM_001365088.1(SLC12A6):c.2299G>C (p.Glu767Gln)
NM_001365088.1(SLC12A6):c.2305T>G (p.Leu769Val) rs1044724997
NM_001365088.1(SLC12A6):c.2317C>T (p.His773Tyr)
NM_001365088.1(SLC12A6):c.2338G>C (p.Ala780Pro)
NM_001365088.1(SLC12A6):c.2360A>G (p.Lys787Arg) rs1891585076
NM_001365088.1(SLC12A6):c.2377G>T (p.Gly793Cys)
NM_001365088.1(SLC12A6):c.2380T>G (p.Ser794Ala)
NM_001365088.1(SLC12A6):c.2387T>C (p.Ile796Thr)
NM_001365088.1(SLC12A6):c.2389G>A (p.Val797Met)
NM_001365088.1(SLC12A6):c.2389G>T (p.Val797Leu) rs1302200388
NM_001365088.1(SLC12A6):c.2413G>A (p.Gly805Ser)
NM_001365088.1(SLC12A6):c.2419G>A (p.Ala807Thr)
NM_001365088.1(SLC12A6):c.241C>T (p.Arg81Trp)
NM_001365088.1(SLC12A6):c.2420C>T (p.Ala807Val)
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2436+4A>G
NM_001365088.1(SLC12A6):c.259G>A (p.Asp87Asn)
NM_001365088.1(SLC12A6):c.25A>G (p.Lys9Glu) rs2141213584
NM_001365088.1(SLC12A6):c.2641C>A (p.Arg881=) rs1891418018
NM_001365088.1(SLC12A6):c.2644G>C (p.Val882Leu)
NM_001365088.1(SLC12A6):c.2660A>G (p.His887Arg) rs1566801268
NM_001365088.1(SLC12A6):c.2666C>G (p.Ala889Gly)
NM_001365088.1(SLC12A6):c.2687T>C (p.Ile896Thr)
NM_001365088.1(SLC12A6):c.2690_2692del (p.Ser897del) rs1555377235
NM_001365088.1(SLC12A6):c.2691CTT[1] (p.Phe899del) rs766009881
NM_001365088.1(SLC12A6):c.271+17732A>C rs781478530
NM_001365088.1(SLC12A6):c.271+17756G>A
NM_001365088.1(SLC12A6):c.271+17781C>T
NM_001365088.1(SLC12A6):c.272-5T>C
NM_001365088.1(SLC12A6):c.2729A>G (p.Asn910Ser)
NM_001365088.1(SLC12A6):c.2731A>G (p.Ile911Val)
NM_001365088.1(SLC12A6):c.2745G>T (p.Trp915Cys)
NM_001365088.1(SLC12A6):c.2789T>A (p.Leu930Gln) rs2140649364
NM_001365088.1(SLC12A6):c.2802+6T>C
NM_001365088.1(SLC12A6):c.2810G>A (p.Arg937Gln)
NM_001365088.1(SLC12A6):c.2815T>C (p.Cys939Arg)
NM_001365088.1(SLC12A6):c.2855A>G (p.Asn952Ser) rs879254048
NM_001365088.1(SLC12A6):c.2870A>C (p.Lys957Thr)
NM_001365088.1(SLC12A6):c.289A>G (p.Ile97Val)
NM_001365088.1(SLC12A6):c.289A>T (p.Ile97Phe)
NM_001365088.1(SLC12A6):c.2934+12G>A
NM_001365088.1(SLC12A6):c.2935-5dup rs771183227
NM_001365088.1(SLC12A6):c.2968C>T (p.Arg990Cys)
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.2T>C (p.Met1Thr)
NM_001365088.1(SLC12A6):c.3005G>A (p.Arg1002Gln) rs778685963
NM_001365088.1(SLC12A6):c.3007C>T (p.His1003Tyr)
NM_001365088.1(SLC12A6):c.3013C>T (p.Arg1005Trp)
NM_001365088.1(SLC12A6):c.3014G>A (p.Arg1005Gln)
NM_001365088.1(SLC12A6):c.3042+1G>A
NM_001365088.1(SLC12A6):c.3058G>C (p.Asp1020His)
NM_001365088.1(SLC12A6):c.3070A>G (p.Met1024Val)
NM_001365088.1(SLC12A6):c.3072G>A (p.Met1024Ile)
NM_001365088.1(SLC12A6):c.3089T>C (p.Ile1030Thr)
NM_001365088.1(SLC12A6):c.3093C>G (p.Gly1031=) rs765914635
NM_001365088.1(SLC12A6):c.3102G>A (p.Glu1034=) rs762351597
NM_001365088.1(SLC12A6):c.3106G>A (p.Glu1036Lys)
NM_001365088.1(SLC12A6):c.3116A>T (p.Glu1039Val)
NM_001365088.1(SLC12A6):c.3120C>G (p.Thr1040=) rs571120129
NM_001365088.1(SLC12A6):c.3126G>C (p.Gln1042His)
NM_001365088.1(SLC12A6):c.3129G>C (p.Glu1043Asp)
NM_001365088.1(SLC12A6):c.315A>G (p.Leu105=)
NM_001365088.1(SLC12A6):c.316+3A>G
NM_001365088.1(SLC12A6):c.316+5A>C
NM_001365088.1(SLC12A6):c.316+6G>C rs1894227805
NM_001365088.1(SLC12A6):c.3163A>G (p.Met1055Val)
NM_001365088.1(SLC12A6):c.3172C>T (p.Arg1058Trp)
NM_001365088.1(SLC12A6):c.3173G>A (p.Arg1058Gln)
NM_001365088.1(SLC12A6):c.3174G>T (p.Arg1058=) rs1333110524
NM_001365088.1(SLC12A6):c.3185C>T (p.Ala1062Val)
NM_001365088.1(SLC12A6):c.3193A>C (p.Met1065Leu)
NM_001365088.1(SLC12A6):c.3227C>T (p.Pro1076Leu)
NM_001365088.1(SLC12A6):c.3228-12T>A
NM_001365088.1(SLC12A6):c.322G>A (p.Gly108Arg)
NM_001365088.1(SLC12A6):c.3262G>C (p.Val1088Leu)
NM_001365088.1(SLC12A6):c.3270C>G (p.Leu1090=) rs1891174701
NM_001365088.1(SLC12A6):c.32C>T (p.Ala11Val)
NM_001365088.1(SLC12A6):c.3311T>C (p.Val1104Ala)
NM_001365088.1(SLC12A6):c.3320A>G (p.Asn1107Ser)
NM_001365088.1(SLC12A6):c.3360C>T (p.Asn1120=)
NM_001365088.1(SLC12A6):c.3398A>G (p.Glu1133Gly)
NM_001365088.1(SLC12A6):c.3401G>A (p.Arg1134Gln)
NM_001365088.1(SLC12A6):c.3415C>T (p.Arg1139Trp)
NM_001365088.1(SLC12A6):c.343G>A (p.Ala115Thr)
NM_001365088.1(SLC12A6):c.3452A>C (p.Ter1151Ser) rs1555376519
NM_001365088.1(SLC12A6):c.349C>G (p.Leu117Val)
NM_001365088.1(SLC12A6):c.362A>G (p.Asn121Ser)
NM_001365088.1(SLC12A6):c.373G>A (p.Gly125Arg)
NM_001365088.1(SLC12A6):c.374G>T (p.Gly125Val) rs759907642
NM_001365088.1(SLC12A6):c.374_375delinsAG (p.Gly125Glu) rs2140777796
NM_001365088.1(SLC12A6):c.376G>A (p.Asp126Asn) rs2140777746
NM_001365088.1(SLC12A6):c.411+10del rs377536268
NM_001365088.1(SLC12A6):c.413A>C (p.Glu138Ala) rs1892933679
NM_001365088.1(SLC12A6):c.419T>G (p.Met140Arg)
NM_001365088.1(SLC12A6):c.41G>A (p.Arg14Gln)
NM_001365088.1(SLC12A6):c.424A>G (p.Thr142Ala)
NM_001365088.1(SLC12A6):c.443C>G (p.Ser148Cys)
NM_001365088.1(SLC12A6):c.455G>T (p.Arg152Leu)
NM_001365088.1(SLC12A6):c.481C>A (p.Gln161Lys)
NM_001365088.1(SLC12A6):c.484G>A (p.Gly162Arg)
NM_001365088.1(SLC12A6):c.543+6G>T rs886051055
NM_001365088.1(SLC12A6):c.55C>T (p.Pro19Ser) rs1890217851
NM_001365088.1(SLC12A6):c.560C>T (p.Thr187Ile)
NM_001365088.1(SLC12A6):c.568G>A (p.Gly190Ser)
NM_001365088.1(SLC12A6):c.568G>T (p.Gly190Cys)
NM_001365088.1(SLC12A6):c.571G>A (p.Val191Ile) rs1892852155
NM_001365088.1(SLC12A6):c.59C>G (p.Thr20Arg) rs2141213365
NM_001365088.1(SLC12A6):c.605T>G (p.Val202Gly)
NM_001365088.1(SLC12A6):c.617T>C (p.Leu206Ser)
NM_001365088.1(SLC12A6):c.63G>C (p.Lys21Asn) rs571064840
NM_001365088.1(SLC12A6):c.68A>G (p.Asp23Gly)
NM_001365088.1(SLC12A6):c.694A>G (p.Met232Val)
NM_001365088.1(SLC12A6):c.695T>C (p.Met232Thr) rs2140734870
NM_001365088.1(SLC12A6):c.712A>G (p.Met238Val)
NM_001365088.1(SLC12A6):c.717T>A (p.Ser239Arg)
NM_001365088.1(SLC12A6):c.722T>G (p.Ile241Ser)
NM_001365088.1(SLC12A6):c.725C>T (p.Ala242Val) rs2140734739
NM_001365088.1(SLC12A6):c.74T>C (p.Ile25Thr)
NM_001365088.1(SLC12A6):c.766A>C (p.Ile256Leu)
NM_001365088.1(SLC12A6):c.775G>T (p.Ala259Ser)
NM_001365088.1(SLC12A6):c.776C>T (p.Ala259Val)
NM_001365088.1(SLC12A6):c.808C>T (p.Leu270Phe)
NM_001365088.1(SLC12A6):c.821T>C (p.Leu274Pro)
NM_001365088.1(SLC12A6):c.839C>G (p.Ala280Gly)
NM_001365088.1(SLC12A6):c.852C>G (p.Ile284Met) rs1467033571
NM_001365088.1(SLC12A6):c.854T>G (p.Leu285Arg) rs2140726894
NM_001365088.1(SLC12A6):c.856G>T (p.Gly286Cys) rs2140726876
NM_001365088.1(SLC12A6):c.861C>T (p.Ala287=) rs760276522
NM_001365088.1(SLC12A6):c.862A>G (p.Ile288Val) rs1892670698
NM_001365088.1(SLC12A6):c.866A>G (p.Glu289Gly)
NM_001365088.1(SLC12A6):c.877-4A>G
NM_001365088.1(SLC12A6):c.877G>A (p.Val293Ile)
NM_001365088.1(SLC12A6):c.881A>G (p.Tyr294Cys)
NM_001365088.1(SLC12A6):c.886G>A (p.Val296Ile)
NM_001365088.1(SLC12A6):c.88G>A (p.Asp30Asn)
NM_001365088.1(SLC12A6):c.890C>A (p.Pro297His)
NM_001365088.1(SLC12A6):c.8C>T (p.Pro3Leu) rs2141213761
NM_001365088.1(SLC12A6):c.901A>G (p.Ile301Val)
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001365088.1(SLC12A6):c.919G>A (p.Ala307Thr)
NM_001365088.1(SLC12A6):c.922C>G (p.Leu308Val)
NM_001365088.1(SLC12A6):c.92C>G (p.Thr31Ser)
NM_001365088.1(SLC12A6):c.935C>G (p.Ala312Gly) rs1892614325
NM_001365088.1(SLC12A6):c.935C>T (p.Ala312Val)
NM_001365088.1(SLC12A6):c.952A>G (p.Met318Val)
NM_001365088.1(SLC12A6):c.956G>A (p.Arg319His) rs369334993
NM_001365088.1(SLC12A6):c.968C>G (p.Thr323Arg) rs2140719549
NM_001365088.1(SLC12A6):c.978G>T (p.Leu326Phe)
NM_001365088.1(SLC12A6):c.985A>G (p.Met329Val)
NM_001365088.1(SLC12A6):c.986T>C (p.Met329Thr)
NM_001365088.1(SLC12A6):c.987G>A (p.Met329Ile) rs1244690559
NM_001365088.1(SLC12A6):c.995T>C (p.Val332Ala) rs1595439064
NM_133647.2(SLC12A6):c.320_322del rs758672590

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