ClinVar Miner

List of variants in gene SLC12A3 reported as likely pathogenic for Familial hypokalemia-hypomagnesemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00011
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00009
NM_001126108.2(SLC12A3):c.602-16G>A rs750901478 0.00009
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 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.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662 0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00004
NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys) rs374055486 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) rs774753302 0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) rs748575829 0.00002
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621 0.00002
NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile) rs759549058 0.00002
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val) rs748920885 0.00002
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383 0.00001
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu) rs1375515522 0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) rs753523115 0.00001
NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu) rs1297766065 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.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn) rs1298687889 0.00001
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His) rs751929135 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 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.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) rs759426055 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001126108.2(SLC12A3):c.852+243C>T rs1384167696 0.00001
NC_000016.9:g.(?_56899118)_56906295del
NM_000339.2:c.(?_-30)_885del
NM_001126108.2(SLC12A3):c.1096-2A>G rs2055189357
NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser) rs2055190908
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter) rs747139582
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu) rs13306668
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.1316G>T (p.Gly439Val)
NM_001126108.2(SLC12A3):c.1335+1_1335+6del rs759801838
NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp) rs139743444
NM_001126108.2(SLC12A3):c.1406C>T (p.Ala469Val)
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.1674G>A (p.Trp558Ter) rs2144723074
NM_001126108.2(SLC12A3):c.1702del (p.Trp568fs)
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
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.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) rs121909380
NM_001126108.2(SLC12A3):c.2037+87A>G rs1456555803
NM_001126108.2(SLC12A3):c.2186G>C (p.Gly729Ala)
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) rs2144733006
NM_001126108.2(SLC12A3):c.2369-2A>G
NM_001126108.2(SLC12A3):c.2420-37_2420-19del rs760759330
NM_001126108.2(SLC12A3):c.2495A>G (p.Asp832Gly) rs1555501437
NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg) rs769412145
NM_001126108.2(SLC12A3):c.2522-18G>A
NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro) rs267607051
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) rs747383768
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.2800C>T (p.Arg934Trp)
NM_001126108.2(SLC12A3):c.283-435_283-384dup rs2144681043
NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=) rs2144767166
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) rs773428143
NM_001126108.2(SLC12A3):c.2911G>A (p.Ala971Thr) rs2144772485
NM_001126108.2(SLC12A3):c.421G>A (p.Gly141Arg)
NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer)
NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs) rs2144677696
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.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.671C>A (p.Ala224Asp) rs1437937060
NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly) rs2144689801
NM_001126108.2(SLC12A3):c.751del (p.Ala251fs)
NM_001126108.2(SLC12A3):c.843_846dup (p.Ser283fs)
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
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.979del (p.Gln327fs)
NM_001126108.2(SLC12A3):c.983_1010del (p.Asn328fs) rs2144695518

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.