ClinVar Miner

List of variants in gene SLC12A3 studied for Gitelman syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 487
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly) rs1529927 0.97710
NM_001126108.2(SLC12A3):c.2634-127T>C rs9922270 0.96546
NM_001126108.2(SLC12A3):c.*664G>C rs5808 0.62518
NM_001126108.2(SLC12A3):c.*931C>T rs37030 0.60253
NM_001126108.2(SLC12A3):c.*1851A>G rs37029 0.60231
NM_001126108.2(SLC12A3):c.*404C>T rs37031 0.58188
NM_001126108.2(SLC12A3):c.*1524C>T rs3812964 0.57598
NM_001126108.2(SLC12A3):c.*516T>A rs11861555 0.49704
NM_001126108.2(SLC12A3):c.1670-8T>C rs2304483 0.48985
NM_001126108.2(SLC12A3):c.2924+13C>T rs2289115 0.34518
NM_001126108.2(SLC12A3):c.*1301A>C rs9927820 0.29170
NM_001126108.2(SLC12A3):c.2634-222A>G rs12448372 0.25380
NM_001126108.2(SLC12A3):c.2721-13T>C rs34772420 0.18153
NM_001126108.2(SLC12A3):c.2856+143A>G rs16963520 0.17855
NM_001126108.2(SLC12A3):c.1336-35C>T rs3816119 0.17459
NM_001126108.2(SLC12A3):c.1395C>T (p.Thr465=) rs5801 0.15318
NM_001126108.2(SLC12A3):c.2857-17G>A rs2289116 0.13711
NM_001126108.2(SLC12A3):c.2521+278C>T rs16963395 0.12416
NM_001126108.2(SLC12A3):c.2142C>T (p.Ala714=) rs5803 0.11388
NM_001126108.2(SLC12A3):c.2179-8C>T rs13306676 0.11191
NM_001126108.2(SLC12A3):c.*975A>G rs56079121 0.11158
NM_001126108.2(SLC12A3):c.1926-172G>A rs12444694 0.10747
NM_001126108.2(SLC12A3):c.*1674C>T rs3812963 0.09905
NM_001126108.2(SLC12A3):c.2598C>T (p.Gly866=) rs5804 0.09125
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) rs11643718 0.08381
NM_001126108.2(SLC12A3):c.1925+72C>G rs12596776 0.08327
NM_001126108.2(SLC12A3):c.1884G>A (p.Ser628=) rs5802 0.08069
NM_001126108.2(SLC12A3):c.366A>G (p.Ala122=) rs2304479 0.05592
NM_001126108.2(SLC12A3):c.1023C>T (p.Phe341=) rs2229209 0.04172
NM_001126108.2(SLC12A3):c.1825+9C>A rs35797045 0.03711
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965 0.03475
NM_001126108.2(SLC12A3):c.*1204T>C rs116537640 0.02034
NM_001126108.2(SLC12A3):c.*2432T>C rs115344087 0.02023
NM_001126108.2(SLC12A3):c.1865A>G (p.Asn622Ser) rs61746763 0.01422
NM_001126108.2(SLC12A3):c.*2068C>G rs142540870 0.01329
NM_001126108.2(SLC12A3):c.1567+290G>A rs148931404 0.01145
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001126108.2(SLC12A3):c.*1647C>T rs115285739 0.00668
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986 0.00597
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437 0.00523
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476 0.00473
NM_001126108.2(SLC12A3):c.*1161A>G rs16963782 0.00446
NM_001126108.2(SLC12A3):c.*752C>T rs8049491 0.00434
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525 0.00433
NM_001126108.2(SLC12A3):c.*2295T>C rs181993451 0.00333
NM_001126108.2(SLC12A3):c.*1978T>G rs147734763 0.00294
NM_001126108.2(SLC12A3):c.*576C>G rs139828223 0.00271
NM_001126108.2(SLC12A3):c.*2405C>T rs769553356 0.00258
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) rs35005216 0.00257
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) rs146834675 0.00213
NM_001126108.2(SLC12A3):c.1210G>A (p.Val404Ile) rs150358489 0.00196
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_001126108.2(SLC12A3):c.*1532G>A rs531355050 0.00175
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_001126108.2(SLC12A3):c.*960A>T rs545337733 0.00163
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00146
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=) rs34055681 0.00143
NM_001126108.2(SLC12A3):c.*2320T>A rs186173400 0.00129
NM_001126108.2(SLC12A3):c.*2030T>C rs540004549 0.00121
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001126108.2(SLC12A3):c.1567+7C>T rs376819753 0.00101
NM_001126108.2(SLC12A3):c.429+9G>A rs375425173 0.00101
NM_001126108.2(SLC12A3):c.1002G>A (p.Arg334=) rs146318329 0.00098
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00098
NM_001126108.2(SLC12A3):c.*458T>C rs565029718 0.00090
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=) rs149172580 0.00072
NM_001126108.2(SLC12A3):c.723C>T (p.Thr241=) rs149259406 0.00069
NM_001126108.2(SLC12A3):c.*282T>A rs569410134 0.00063
NM_001126108.2(SLC12A3):c.2285+8G>A rs199854613 0.00061
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602 0.00048
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys) rs757776621 0.00038
NM_001126108.2(SLC12A3):c.2470T>A (p.Ser824Thr) rs146845953 0.00038
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr) rs563131364 0.00031
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876 0.00029
NM_001126108.2(SLC12A3):c.1926-10C>G rs375828467 0.00029
NM_001126108.2(SLC12A3):c.1180+10C>T rs368574873 0.00027
NM_001126108.2(SLC12A3):c.742-6C>T rs370741134 0.00027
NM_001126108.2(SLC12A3):c.408C>T (p.Phe136=) rs142561570 0.00026
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met) rs139329616 0.00025
NM_001126108.2(SLC12A3):c.*1512G>A rs142981886 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001126108.2(SLC12A3):c.2803C>T (p.Arg935Trp) rs56125220 0.00023
NM_001126108.2(SLC12A3):c.*518T>A rs886052167 0.00022
NM_001126108.2(SLC12A3):c.*1985G>A rs535923100 0.00021
NM_001126108.2(SLC12A3):c.*2133T>C rs574216318 0.00021
NM_001126108.2(SLC12A3):c.2368+18C>A rs370563622 0.00021
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454 0.00020
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val) rs201130736 0.00019
NM_001126108.2(SLC12A3):c.1833T>C (p.Asn611=) rs368198835 0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001126108.2(SLC12A3):c.*2423C>T rs545437813 0.00016
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=) rs147984554 0.00016
NM_001126108.2(SLC12A3):c.2368+8C>A rs140236327 0.00015
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001126108.2(SLC12A3):c.*285T>C rs539777837 0.00011
NM_001126108.2(SLC12A3):c.-5C>T rs200585631 0.00011
NM_001126108.2(SLC12A3):c.1453G>A (p.Glu485Lys) rs201804135 0.00011
NM_001126108.2(SLC12A3):c.1696A>T (p.Asn566Tyr) rs142414514 0.00011
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val) rs369272221 0.00011
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) rs539069621 0.00011
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) rs373899077 0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00011
NM_001126108.2(SLC12A3):c.*1920A>G rs760358705 0.00010
NM_001126108.2(SLC12A3):c.*735C>T rs749653890 0.00010
NM_001126108.2(SLC12A3):c.161G>A (p.Arg54His) rs373163077 0.00010
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00009
NM_001126108.2(SLC12A3):c.2285+7C>T rs774342870 0.00009
NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile) rs373092349 0.00009
NM_001126108.2(SLC12A3):c.602-16G>A rs750901478 0.00009
NM_001126108.2(SLC12A3):c.*2051C>T rs569306925 0.00008
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His) rs759532318 0.00008
NM_001126108.2(SLC12A3):c.1412C>T (p.Ala471Val) rs201341355 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val) rs79351185 0.00008
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) rs387907471 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001126108.2(SLC12A3):c.2521+255G>A rs1037430183 0.00007
NM_001126108.2(SLC12A3):c.2857-7C>T rs745327566 0.00007
NM_001126108.2(SLC12A3):c.409G>A (p.Gly137Ser) rs143774019 0.00007
NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala) rs146854174 0.00007
NM_001126108.2(SLC12A3):c.*1624C>T rs886052171 0.00006
NM_001126108.2(SLC12A3):c.*836G>A rs149793899 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662 0.00006
NM_001126108.2(SLC12A3):c.1774G>A (p.Ala592Thr) rs149644636 0.00006
NM_001126108.2(SLC12A3):c.1797C>T (p.Leu599=) rs777125875 0.00006
NM_001126108.2(SLC12A3):c.1932G>A (p.Gln644=) rs749222099 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) rs201190064 0.00006
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr) rs201318038 0.00006
NM_001126108.2(SLC12A3):c.1249G>A (p.Glu417Lys) rs368455032 0.00005
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=) rs776210036 0.00005
NM_001126108.2(SLC12A3):c.2037+1G>A rs775799617 0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_001126108.2(SLC12A3):c.853-12C>T rs376908568 0.00005
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=) rs200091201 0.00004
NM_001126108.2(SLC12A3):c.2153G>A (p.Arg718His) rs748652939 0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_001126108.2(SLC12A3):c.2514C>T (p.Asp838=) rs142297310 0.00004
NM_001126108.2(SLC12A3):c.2615T>C (p.Met872Thr) rs752124879 0.00004
NM_001126108.2(SLC12A3):c.2801G>A (p.Arg934Gln) rs56259558 0.00004
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00004
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met) rs779074538 0.00004
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) rs1274973729 0.00004
NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys) rs374055486 0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) rs758035631 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_001126108.2(SLC12A3):c.*2084G>A rs577055452 0.00003
NM_001126108.2(SLC12A3):c.*2378A>T rs886052176 0.00003
NM_001126108.2(SLC12A3):c.*349G>A rs886052162 0.00003
NM_001126108.2(SLC12A3):c.1050G>A (p.Ser350=) rs752171513 0.00003
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val) rs554432544 0.00003
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) rs774753302 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432 0.00003
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=) rs776382586 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.2578A>G (p.Lys860Glu) rs200253241 0.00003
NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His) rs267607051 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001126108.2(SLC12A3):c.348G>A (p.Gly116=) rs149890322 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro) rs780594361 0.00003
NM_001126108.2(SLC12A3):c.744G>A (p.Glu248=) rs753403903 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001126108.2(SLC12A3):c.*2358T>C rs886052175 0.00002
NM_001126108.2(SLC12A3):c.*243C>T rs886052161 0.00002
NM_001126108.2(SLC12A3):c.*733A>G rs554943055 0.00002
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) rs748575829 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.1396C>G (p.Leu466Val) rs374545976 0.00002
NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter) rs746818109 0.00002
NM_001126108.2(SLC12A3):c.1601A>G (p.Asn534Ser) rs780433336 0.00002
NM_001126108.2(SLC12A3):c.1925+1G>A rs1401379546 0.00002
NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met) rs771326058 0.00002
NM_001126108.2(SLC12A3):c.2121C>G (p.Ala707=) rs762500731 0.00002
NM_001126108.2(SLC12A3):c.2419+8G>A rs372318235 0.00002
NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs) rs750735794 0.00002
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621 0.00002
NM_001126108.2(SLC12A3):c.2924+825C>T rs1403329930 0.00002
NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile) rs759549058 0.00002
NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp) rs772187470 0.00002
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met) rs751725614 0.00002
NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met) rs755069436 0.00002
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val) rs748920885 0.00002
NM_001126108.2(SLC12A3):c.*1266G>T rs886052169 0.00001
NM_001126108.2(SLC12A3):c.*1323G>C rs886052170 0.00001
NM_001126108.2(SLC12A3):c.*1745T>C rs886052172 0.00001
NM_001126108.2(SLC12A3):c.*1896A>T rs886052173 0.00001
NM_001126108.2(SLC12A3):c.*2318A>C rs886052174 0.00001
NM_001126108.2(SLC12A3):c.*317T>C rs933472377 0.00001
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383 0.00001
NM_001126108.2(SLC12A3):c.1114C>A (p.Pro372Thr) rs2055189755 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1248C>T (p.Cys416=) rs766672339 0.00001
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr) rs137970015 0.00001
NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg) rs28936387 0.00001
NM_001126108.2(SLC12A3):c.1367del (p.Leu456fs) rs2055210001 0.00001
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu) rs1375515522 0.00001
NM_001126108.2(SLC12A3):c.1442A>G (p.Gln481Arg) rs1303866177 0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) rs753523115 0.00001
NM_001126108.2(SLC12A3):c.1458C>T (p.Asp486=) rs1215392195 0.00001
NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu) rs1297766065 0.00001
NM_001126108.2(SLC12A3):c.1485C>T (p.Phe495=) rs1297766065 0.00001
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=) rs764801122 0.00001
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr) rs781137708 0.00001
NM_001126108.2(SLC12A3):c.1568-1G>A rs199511487 0.00001
NM_001126108.2(SLC12A3):c.1606T>C (p.Phe536Leu) rs748650798 0.00001
NM_001126108.2(SLC12A3):c.1783G>A (p.Val595Met) rs201432183 0.00001
NM_001126108.2(SLC12A3):c.1817A>G (p.Lys606Arg) rs1287765860 0.00001
NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro) rs121909385 0.00001
NM_001126108.2(SLC12A3):c.1911C>T (p.His637=) rs1168785341 0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) rs886039754 0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T rs755560627 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001126108.2(SLC12A3):c.2037+10C>T rs774757777 0.00001
NM_001126108.2(SLC12A3):c.2038-6C>T rs1287454816 0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.2172C>T (p.Leu724=) rs201038360 0.00001
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=) rs150633177 0.00001
NM_001126108.2(SLC12A3):c.2262G>A (p.Val754=) rs745611719 0.00001
NM_001126108.2(SLC12A3):c.2331G>A (p.Arg777=) rs1269639917 0.00001
NM_001126108.2(SLC12A3):c.2336G>A (p.Gly779Glu) rs374352597 0.00001
NM_001126108.2(SLC12A3):c.2397C>T (p.Asp799=) rs139943829 0.00001
NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr) rs758304056 0.00001
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn) rs1298687889 0.00001
NM_001126108.2(SLC12A3):c.2516A>T (p.Asp839Val) rs1467657889 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His) rs751929135 0.00001
NM_001126108.2(SLC12A3):c.2633+1G>A rs778455414 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001126108.2(SLC12A3):c.2673T>C (p.His891=) rs769641982 0.00001
NM_001126108.2(SLC12A3):c.333C>T (p.His111=) rs867887117 0.00001
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys) rs199745548 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001126108.2(SLC12A3):c.430-12C>T rs759198908 0.00001
NM_001126108.2(SLC12A3):c.430-13C>T rs773727087 0.00001
NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter) rs751409326 0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) rs748547209 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NM_001126108.2(SLC12A3):c.539_543del (p.Thr180fs) rs1246662762 0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) rs759426055 0.00001
NM_001126108.2(SLC12A3):c.56G>A (p.Arg19His) rs776593495 0.00001
NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp) rs28936388 0.00001
NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val) rs387907469 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001126108.2(SLC12A3):c.741+9G>A rs761526794 0.00001
NM_001126108.2(SLC12A3):c.852+243C>T rs1384167696 0.00001
NM_001126108.2(SLC12A3):c.975T>C (p.Phe325=) rs1335054266 0.00001
NC_000016.9:g.(?_56899118)_56906295del
NM_000339.2(SLC12A3):c.[1849C>T];[1919A>G]
NM_000339.2(SLC12A3):c.[488C>T;2612G>A]
NM_000339.2:c.(2951+1_2952-1)_(*1_?)del
NM_000339.2:c.(?_-30)_885del
NM_001126108.2(SLC12A3):c.*1000A>G rs886052168
NM_001126108.2(SLC12A3):c.*1142C>G rs2055729446
NM_001126108.2(SLC12A3):c.*1446G>T rs1054078123
NM_001126108.2(SLC12A3):c.*1456A>G rs766017472
NM_001126108.2(SLC12A3):c.*2104G>C rs534529573
NM_001126108.2(SLC12A3):c.*2329T>C rs2055742120
NM_001126108.2(SLC12A3):c.*2340G>T rs2055742161
NM_001126108.2(SLC12A3):c.*2343T>C rs2055742189
NM_001126108.2(SLC12A3):c.*2412del rs886052177
NM_001126108.2(SLC12A3):c.*495G>A rs886052163
NM_001126108.2(SLC12A3):c.*515_*516insA rs886052166
NM_001126108.2(SLC12A3):c.*524del rs11347677
NM_001126108.2(SLC12A3):c.*524dup rs11347677
NM_001126108.2(SLC12A3):c.*895G>A rs1046715582
NM_001126108.2(SLC12A3):c.1015A>C (p.Thr339Pro)
NM_001126108.2(SLC12A3):c.1017C>T (p.Thr339=) rs1159677951
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)
NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys) rs181865675
NM_001126108.2(SLC12A3):c.1095+4A>G rs2144695925
NM_001126108.2(SLC12A3):c.1096-2A>G rs2055189357
NM_001126108.2(SLC12A3):c.1096-540_1181-347del
NM_001126108.2(SLC12A3):c.1125C>A (p.Thr375=) rs761193208
NM_001126108.2(SLC12A3):c.1148C>A (p.Thr383Asn) rs2144709063
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1176C>G (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1178T>A (p.Ile393Asn)
NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser) rs2055190908
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp) rs777815715
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter) rs747139582
NM_001126108.2(SLC12A3):c.1196G>A (p.Arg399His) rs13306668
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu) rs13306668
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer) rs751871500
NM_001126108.2(SLC12A3):c.1229C>A (p.Thr410Asn) rs886052157
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser) rs1429832884
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs) rs2144711571
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly) rs28936387
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr) rs781342495
NM_001126108.2(SLC12A3):c.1276A>T (p.Asn426Tyr) rs200817545
NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly) rs2144711663
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter) rs776210036
NM_001126108.2(SLC12A3):c.1316G>T (p.Gly439Val)
NM_001126108.2(SLC12A3):c.1335+1_1335+6del rs759801838
NM_001126108.2(SLC12A3):c.1336-3C>A rs1295643797
NM_001126108.2(SLC12A3):c.1338del (p.Thr446_Met447insTer) rs886041108
NM_001126108.2(SLC12A3):c.1349T>G (p.Val450Gly) rs2144712544
NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser) rs2055210264
NM_001126108.2(SLC12A3):c.1394C>A (p.Thr465Asn)
NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp) rs139743444
NM_001126108.2(SLC12A3):c.1406C>T (p.Ala469Val)
NM_001126108.2(SLC12A3):c.1412C>A (p.Ala471Asp) rs201341355
NM_001126108.2(SLC12A3):c.1420G>T (p.Val474Phe)
NM_001126108.2(SLC12A3):c.1443+1G>A
NM_001126108.2(SLC12A3):c.1444-2_1462dup rs1325615258
NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter)
NM_001126108.2(SLC12A3):c.1465T>C (p.Tyr489His) rs2144714194
NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys) rs777612082
NM_001126108.2(SLC12A3):c.1513C>A (p.Pro505Thr) rs1486448470
NM_001126108.2(SLC12A3):c.1568-12G>A
NM_001126108.2(SLC12A3):c.1568-5C>T rs751475080
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly) rs1451284628
NM_001126108.2(SLC12A3):c.1668del (p.Trp558fs)
NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter) rs2144723074
NM_001126108.2(SLC12A3):c.1680_1682del (p.Ser561del) rs2144723103
NM_001126108.2(SLC12A3):c.1684_1696del (p.Phe562fs)
NM_001126108.2(SLC12A3):c.1687C>T (p.Gln563Ter) rs2144723125
NM_001126108.2(SLC12A3):c.1702del (p.Trp568fs)
NM_001126108.2(SLC12A3):c.1706C>A (p.Ala569Glu) rs79351185
NM_001126108.2(SLC12A3):c.1726A>G (p.Ile576Val) rs2055277862
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001126108.2(SLC12A3):c.1805_1806del (p.Tyr602fs) rs2144723594
NM_001126108.2(SLC12A3):c.1825+1G>C
NM_001126108.2(SLC12A3):c.1844C>G (p.Ser615Trp) rs779160677
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn) rs757490496
NM_001126108.2(SLC12A3):c.1850A>G (p.Gln617Arg)
NM_001126108.2(SLC12A3):c.185A>G (p.Asp62Gly)
NM_001126108.2(SLC12A3):c.1881C>T (p.Tyr627=) rs2055295668
NM_001126108.2(SLC12A3):c.1889G>T (p.Gly630Val) rs121909384
NM_001126108.2(SLC12A3):c.1899G>C (p.Glu633Asp) rs1489892274
NM_001126108.2(SLC12A3):c.1914C>G (p.Ile638Met) rs749234287
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) rs200697179
NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs) rs779215330
NM_001126108.2(SLC12A3):c.1932G>C (p.Gln644His)
NM_001126108.2(SLC12A3):c.1956del (p.Asn653fs)
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) rs121909380
NM_001126108.2(SLC12A3):c.1984G>T (p.Val662Leu)
NM_001126108.2(SLC12A3):c.1992del (p.Phe665fs)
NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val) rs1319085522
NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter) rs1227599828
NM_001126108.2(SLC12A3):c.2025C>G (p.Gly675=) rs1232012807
NM_001126108.2(SLC12A3):c.2037+87A>G rs1456555803
NM_001126108.2(SLC12A3):c.2076C>T (p.Ile692=) rs780880719
NM_001126108.2(SLC12A3):c.2099T>C (p.Leu700Pro)
NM_001126108.2(SLC12A3):c.209A>G (p.Tyr70Cys)
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs) rs750710315
NM_001126108.2(SLC12A3):c.2129C>A (p.Ser710Ter)
NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu) rs546999572
NM_001126108.2(SLC12A3):c.2186G>C (p.Gly729Ala)
NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile) rs1424832490
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) rs2144733006
NM_001126108.2(SLC12A3):c.2225T>G (p.Phe742Cys) rs2055341573
NM_001126108.2(SLC12A3):c.2238G>A (p.Trp746Ter)
NM_001126108.2(SLC12A3):c.2272A>C (p.Ile758Leu) rs886052158
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr) rs61730207
NM_001126108.2(SLC12A3):c.2273T>G (p.Ile758Ser) rs61730207
NM_001126108.2(SLC12A3):c.2285+10_2285+12del rs562443353
NM_001126108.2(SLC12A3):c.2303A>T (p.Asn768Ile) rs574853861
NM_001126108.2(SLC12A3):c.2368+185C>T rs1394574663
NM_001126108.2(SLC12A3):c.2369-191C>T rs912634409
NM_001126108.2(SLC12A3):c.2369-2A>G
NM_001126108.2(SLC12A3):c.2378T>C (p.Val793Ala) rs2055395686
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) rs780299444
NM_001126108.2(SLC12A3):c.2419+9C>T rs2055396681
NM_001126108.2(SLC12A3):c.2420-37T>C rs2278489
NM_001126108.2(SLC12A3):c.2420-37_2420-19del rs760759330
NM_001126108.2(SLC12A3):c.2420-80G>T
NM_001126108.2(SLC12A3):c.2495A>G (p.Asp832Gly) rs1555501437
NM_001126108.2(SLC12A3):c.2510_2511del (p.Leu836_Phe837insTer) rs2055411543
NM_001126108.2(SLC12A3):c.2521G>A (p.Gly841Ser) rs769412145
NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg) rs769412145
NM_001126108.2(SLC12A3):c.2522-18G>A
NM_001126108.2(SLC12A3):c.2522-218_2522-215del rs1396799568
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=) rs191194366
NM_001126108.2(SLC12A3):c.2576del (p.Cys859fs) rs1555501632
NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro) rs267607051
NM_001126108.2(SLC12A3):c.2603A>G (p.Gln868Arg) rs2055437395
NM_001126108.2(SLC12A3):c.2634-9G>A rs1596944843
NM_001126108.2(SLC12A3):c.2652C>G (p.Ser884Arg)
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) rs747383768
NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro) rs764833797
NM_001126108.2(SLC12A3):c.268C>T (p.His90Tyr) rs1596883431
NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro) rs1555499151
NM_001126108.2(SLC12A3):c.2720+1G>C rs1347239469
NM_001126108.2(SLC12A3):c.2720+1G>T rs1347239469
NM_001126108.2(SLC12A3):c.2721-2A>T rs2144766556
NM_001126108.2(SLC12A3):c.2746G>T (p.Ala916Ser) rs2144766684
NM_001126108.2(SLC12A3):c.2781G>A (p.Glu927=) rs2144766852
NM_001126108.2(SLC12A3):c.2798T>A (p.Met933Lys) rs777021735
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)
NM_001126108.2(SLC12A3):c.2800_2803del (p.Arg934fs) rs758020565
NM_001126108.2(SLC12A3):c.2814del (p.Trp939fs)
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter) rs760134110
NM_001126108.2(SLC12A3):c.283-435_283-384dup rs2144681043
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs) rs1555499234
NM_001126108.2(SLC12A3):c.2842A>T (p.Lys948Ter) rs1244866304
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs) rs746623621
NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=) rs2144767166
NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter) rs761692493
NM_001126108.2(SLC12A3):c.286G>A (p.Glu96Lys) rs886052156
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) rs773428143
NM_001126108.2(SLC12A3):c.2900C>T (p.Ser967Phe) rs755475785
NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter) rs765609579
NM_001126108.2(SLC12A3):c.2911G>A (p.Ala971Thr) rs2144772485
NM_001126108.2(SLC12A3):c.296A>T (p.His99Leu) rs779559035
NM_001126108.2(SLC12A3):c.308T>C (p.Leu103Pro) rs747197324
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp) rs541789117
NM_001126108.2(SLC12A3):c.329del (p.Ser110fs) rs1294865855
NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln) rs200219778
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) rs200219778
NM_001126108.2(SLC12A3):c.345T>C (p.Asp115=) rs1596885818
NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs) rs1964322654
NM_001126108.2(SLC12A3):c.378del (p.Ser126fs)
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) rs769047841
NM_001126108.2(SLC12A3):c.40A>T (p.Thr14Ser) rs1964322979
NM_001126108.2(SLC12A3):c.421G>A (p.Gly141Arg)
NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer)
NM_001126108.2(SLC12A3):c.427A>G (p.Met143Val) rs1964378547
NM_001126108.2(SLC12A3):c.429+1_429+28del rs2144682680
NM_001126108.2(SLC12A3):c.430-3C>A rs1964407153
NM_001126108.2(SLC12A3):c.430-472_430-461del rs553429427
NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs) rs2144677696
NM_001126108.2(SLC12A3):c.447C>G (p.Asn149Lys)
NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met) rs143714318
NM_001126108.2(SLC12A3):c.489G>C (p.Thr163=) rs766590120
NM_001126108.2(SLC12A3):c.505+5G>A rs751112698
NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro) rs1596890176
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs) rs770513014
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs) rs758683818
NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)
NM_001126108.2(SLC12A3):c.599C>G (p.Ser200Ter)
NM_001126108.2(SLC12A3):c.602-11T>A rs2055071198
NM_001126108.2(SLC12A3):c.602G>T (p.Gly201Val) rs2144689378
NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro) rs758035631
NM_001126108.2(SLC12A3):c.634G>C (p.Gly212Arg)
NM_001126108.2(SLC12A3):c.659del (p.Gly220fs) rs2144689577
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp) rs1437937060
NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)
NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly) rs2144689801
NM_001126108.2(SLC12A3):c.741+8C>G rs200257610
NM_001126108.2(SLC12A3):c.741+8C>T rs200257610
NM_001126108.2(SLC12A3):c.751del (p.Ala251fs)
NM_001126108.2(SLC12A3):c.791C>A (p.Ala264Asp) rs1529927
NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly) rs2055081574
NM_001126108.2(SLC12A3):c.792C>T (p.Ala264=)
NM_001126108.2(SLC12A3):c.817dup (p.Ala273fs) rs2055082369
NM_001126108.2(SLC12A3):c.843_846dup (p.Ser283fs)
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001126108.2(SLC12A3):c.852+7_852+9del rs758702370
NM_001126108.2(SLC12A3):c.887C>T (p.Ser296Phe) rs2144694797
NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter) rs751675724
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) rs748920885
NM_001126108.2(SLC12A3):c.964+1G>A rs1596895536
NM_001126108.2(SLC12A3):c.964+1G>T rs1596895536
NM_001126108.2(SLC12A3):c.965-1_976delinsACCGAAAATTTT
NM_001126108.2(SLC12A3):c.979del (p.Gln327fs)
NM_001126108.2(SLC12A3):c.983_1010del (p.Asn328fs) rs2144695518
NM_001126108.2(SLC12A3):c.[1315G>A];[2856+1G>T]

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