ClinVar Miner

List of variants in gene SLC13A5 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.1437+176A>G rs218696 0.64114
NM_177550.5(SLC13A5):c.1438-113T>A rs218692 0.62908
NM_177550.5(SLC13A5):c.717-263A>C rs218671 0.50953
NM_177550.5(SLC13A5):c.1576-226A>G rs218690 0.26940
NM_177550.5(SLC13A5):c.*176T>A rs218689 0.25510
NM_177550.5(SLC13A5):c.840-105A>G rs7220915 0.25132
NM_177550.5(SLC13A5):c.547+221C>A rs218675 0.24892
NM_177550.5(SLC13A5):c.547+264T>C rs218674 0.24727
NM_177550.5(SLC13A5):c.547+165dup rs76135761 0.24703
NM_177550.5(SLC13A5):c.547+179C>T rs218676 0.24163
NM_177550.5(SLC13A5):c.1276-63C>T rs4796540 0.23897
NM_177550.5(SLC13A5):c.548-291G>A rs9906062 0.18205
NM_177550.5(SLC13A5):c.1156+170T>C rs58910651 0.14166
NM_177550.5(SLC13A5):c.103-226G>C rs2871294 0.13881
NM_177550.5(SLC13A5):c.1056-262T>C rs218686 0.12851
NM_177550.5(SLC13A5):c.1437+84G>A rs218697 0.12744
NM_177550.5(SLC13A5):c.1438-164G>A rs3744394 0.12400
NM_177550.5(SLC13A5):c.369-60C>T rs218678 0.12006
NM_177550.5(SLC13A5):c.840-225G>A rs76041201 0.11217
NM_177550.5(SLC13A5):c.548-119G>A rs16956170 0.10078
NM_177550.5(SLC13A5):c.547+202G>A rs76446096 0.09813
NM_177550.5(SLC13A5):c.102+24C>T rs62621831 0.09357
NM_177550.5(SLC13A5):c.1275+115C>T rs17670749 0.09350
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=) rs55698160 0.09334
NM_177550.5(SLC13A5):c.1275+232A>G rs56188881 0.08284
NM_177550.5(SLC13A5):c.1276-318G>A rs76594654 0.08191
NM_177550.5(SLC13A5):c.1275+204A>G rs16956162 0.06769
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=) rs56224509 0.06724
NM_177550.5(SLC13A5):c.840-115G>A rs73976250 0.06264
NM_177550.5(SLC13A5):c.717-335G>C rs74934559 0.06246
NM_177550.5(SLC13A5):c.548-292C>T rs73976252 0.06230
NM_177550.5(SLC13A5):c.839+285C>G rs57992805 0.06216
NM_177550.5(SLC13A5):c.547+272T>G rs72836207 0.06175
NM_177550.5(SLC13A5):c.548-80G>A rs8072966 0.06056
NM_177550.5(SLC13A5):c.717-312C>T rs74252223 0.05495
NM_177550.5(SLC13A5):c.1438-82A>G rs16956138 0.04112
NM_177550.5(SLC13A5):c.102+101G>C rs114362714 0.03930
NM_177550.5(SLC13A5):c.840-28G>A rs77795940 0.03683
NM_177550.5(SLC13A5):c.*31T>C rs16956120 0.03222
NM_177550.5(SLC13A5):c.547+304C>T rs16956176 0.03169
NM_177550.4(SLC13A5):c.-84C>T rs115287213 0.02787
NM_177550.5(SLC13A5):c.369-148C>T rs8076962 0.02583
NM_177550.5(SLC13A5):c.369-14C>T rs218677 0.02396
NM_177550.5(SLC13A5):c.716+11G>C rs7215596 0.02122
NM_177550.5(SLC13A5):c.-17A>C rs62061545 0.01928
NM_177550.5(SLC13A5):c.*315G>A rs16956117 0.01754
NM_177550.5(SLC13A5):c.103-61T>C rs62061541 0.01748
NM_177550.5(SLC13A5):c.547+47C>T rs62061540 0.01614
NM_177550.5(SLC13A5):c.840-134C>A rs116715176 0.01387
NM_177550.5(SLC13A5):c.1438-56G>A rs78203589 0.01352
NM_177550.5(SLC13A5):c.1275+151A>T rs115733013 0.01232
NM_177550.5(SLC13A5):c.1157-204T>C rs117495155 0.01209
NM_177550.5(SLC13A5):c.1055+89G>C rs11869296 0.01124
NM_177550.5(SLC13A5):c.1276-151G>A rs115245849 0.01066
NM_177550.4(SLC13A5):c.-161C>G rs561401348 0.01028
NM_177550.5(SLC13A5):c.1575+28G>A rs139509544 0.00928
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) rs61520357 0.00918
NM_177550.5(SLC13A5):c.1056-33T>C rs117607871 0.00756
NM_177550.5(SLC13A5):c.1056-290C>T rs142395921 0.00700
NM_177550.5(SLC13A5):c.1575+40C>T rs112859498 0.00632
NM_177550.5(SLC13A5):c.1157-179A>T rs191618414 0.00624
NC_000017.11:g.6713628T>C rs114219045 0.00563
NM_177550.5(SLC13A5):c.1156+34G>A rs138567784 0.00458
NM_177550.5(SLC13A5):c.716+283G>T rs560058347 0.00453
NM_177550.5(SLC13A5):c.1157-153T>G rs147653004 0.00405
NM_177550.5(SLC13A5):c.840-265A>C rs796739375 0.00387
NM_177550.5(SLC13A5):c.840-90A>G rs557415050 0.00387
NM_177550.5(SLC13A5):c.1437+280C>T rs73976238 0.00356
NM_177550.5(SLC13A5):c.368+214C>T rs144037171 0.00320
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00250
NM_177550.5(SLC13A5):c.716+102C>T rs534420975 0.00173
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_177550.5(SLC13A5):c.232-11C>T rs112805825 0.00061
NM_177550.5(SLC13A5):c.716+15G>A rs377090828 0.00049
NM_177550.5(SLC13A5):c.690C>T (p.Asn230=) rs146385318 0.00041
NM_177550.5(SLC13A5):c.1576-13G>A rs377340234 0.00040
NM_177550.5(SLC13A5):c.369-17C>T rs372696631 0.00040
NM_177550.5(SLC13A5):c.582G>A (p.Gly194=) rs147260918 0.00040
NM_177550.5(SLC13A5):c.1230C>T (p.Ile410=) rs149447388 0.00035
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) rs200645836 0.00032
NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=) rs139660928 0.00029
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_177550.5(SLC13A5):c.642C>T (p.Tyr214=) rs148755614 0.00018
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00017
NM_177550.5(SLC13A5):c.1156+9C>T rs201530285 0.00016
NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=) rs150722760 0.00016
NM_177550.5(SLC13A5):c.285C>T (p.Ile95=) rs149068818 0.00016
NM_177550.5(SLC13A5):c.1276-19C>A rs200223186 0.00015
NM_177550.5(SLC13A5):c.504C>T (p.Ala168=) rs141506210 0.00015
NM_177550.5(SLC13A5):c.144C>T (p.Tyr48=) rs138537951 0.00014
NM_177550.5(SLC13A5):c.927G>A (p.Leu309=) rs141287518 0.00014
NM_177550.5(SLC13A5):c.103-15G>A rs374410291 0.00013
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=) rs139698810 0.00013
NM_177550.5(SLC13A5):c.882C>T (p.Asn294=) rs143504660 0.00013
NM_177550.5(SLC13A5):c.369-12C>T rs375349735 0.00012
NM_177550.5(SLC13A5):c.60C>T (p.Thr20=) rs141481217 0.00011
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_177550.5(SLC13A5):c.357C>T (p.Ala119=) rs748950933 0.00010
NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=) rs572994797 0.00008
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg) rs761215437 0.00008
NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=) rs374067396 0.00007
NM_177550.5(SLC13A5):c.369-304A>G rs544302299 0.00007
NM_177550.5(SLC13A5):c.1055+16A>C rs756534283 0.00006
NM_177550.5(SLC13A5):c.663C>T (p.Thr221=) rs373831482 0.00006
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=) rs754553205 0.00006
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val) rs150517372 0.00006
NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala) rs569395560 0.00004
NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=) rs764993670 0.00004
NM_177550.5(SLC13A5):c.18C>T (p.Ser6=) rs775174636 0.00004
NM_177550.5(SLC13A5):c.232-8C>T rs566063560 0.00004
NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met) rs759069275 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_177550.5(SLC13A5):c.441G>A (p.Met147Ile) rs764711084 0.00004
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) rs199620361 0.00004
NM_177550.5(SLC13A5):c.945G>A (p.Ala315=) rs1057522909 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_177550.4(SLC13A5):c.-39C>T rs369429487 0.00003
NM_177550.5(SLC13A5):c.1281G>A (p.Ser427=) rs377534564 0.00003
NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=) rs756166033 0.00003
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00003
NM_177550.5(SLC13A5):c.654C>T (p.Ile218=) rs547998800 0.00003
NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu) rs759034052 0.00003
NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln) rs1379095103 0.00003
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu) rs746999375 0.00002
NM_177550.5(SLC13A5):c.1055+15C>A rs764186836 0.00002
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=) rs529673803 0.00002
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser) rs765709852 0.00002
NM_177550.5(SLC13A5):c.1438-4G>A rs901014442 0.00002
NM_177550.5(SLC13A5):c.232-15C>T rs199904860 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=) rs200365614 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=) rs140940366 0.00001
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn) rs151050636 0.00001
NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg) rs1423476132 0.00001
NM_177550.5(SLC13A5):c.1323C>T (p.His441=) rs368369308 0.00001
NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=) rs766561824 0.00001
NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln) rs373799811 0.00001
NM_177550.5(SLC13A5):c.229C>A (p.Gln77Lys) rs756638508 0.00001
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) rs529524270 0.00001
NM_177550.5(SLC13A5):c.327C>T (p.Ile109=) rs761010502 0.00001
NM_177550.5(SLC13A5):c.402C>T (p.Leu134=) rs1336828226 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_177550.5(SLC13A5):c.502G>A (p.Ala168Thr) rs1555542943 0.00001
NM_177550.5(SLC13A5):c.548-2A>G rs966681982 0.00001
NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile) rs182042247 0.00001
NM_177550.5(SLC13A5):c.717-16C>T rs558529852 0.00001
NM_177550.5(SLC13A5):c.942C>T (p.Phe314=) rs546617630 0.00001
NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu) rs146116408 0.00001
NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile) rs142301014 0.00001
NM_177550.5(SLC13A5):c.-5G>A rs201070767
NM_177550.5(SLC13A5):c.-5G>C rs201070767
NM_177550.5(SLC13A5):c.1002C>T (p.Asp334=) rs765942920
NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=) rs56224509
NM_177550.5(SLC13A5):c.102+232G>A rs8078568
NM_177550.5(SLC13A5):c.1042G>A (p.Glu348Lys) rs1064796653
NM_177550.5(SLC13A5):c.1115C>A (p.Ser372Ter) rs2151485510
NM_177550.5(SLC13A5):c.1157-4C>A rs772441738
NM_177550.5(SLC13A5):c.1157-68GT[21] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[22] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[25] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[27] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[28] rs200900896
NM_177550.5(SLC13A5):c.1165A>G (p.Thr389Ala) rs1555541336
NM_177550.5(SLC13A5):c.1227dup (p.Ile410fs) rs1057518299
NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu) rs201036096
NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr) rs1064796654
NM_177550.5(SLC13A5):c.1300G>A (p.Gly434Arg) rs759705304
NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr) rs373587508
NM_177550.5(SLC13A5):c.1437+15del rs1555540915
NM_177550.5(SLC13A5):c.1468A>G (p.Ile490Val) rs2150961827
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.1558C>G (p.Leu520Val) rs779246920
NM_177550.5(SLC13A5):c.161T>A (p.Ile54Asn)
NM_177550.5(SLC13A5):c.1627G>T (p.Ala543Ser) rs2150960826
NM_177550.5(SLC13A5):c.1635C>G (p.Asn545Lys)
NM_177550.5(SLC13A5):c.1701G>C (p.Glu567Asp) rs1064796705
NM_177550.5(SLC13A5):c.201C>T (p.Phe67=) rs900258843
NM_177550.5(SLC13A5):c.231+46CT[2] rs144316437
NM_177550.5(SLC13A5):c.232-14G>A rs551601158
NM_177550.5(SLC13A5):c.266T>C (p.Leu89Pro) rs2151498242
NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3]) rs1555543390
NM_177550.5(SLC13A5):c.390C>A (p.Gly130=) rs371499002
NM_177550.5(SLC13A5):c.459G>A (p.Glu153=) rs1057521689
NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup) rs748215544
NM_177550.5(SLC13A5):c.511del (p.Glu171fs) rs1057517820
NM_177550.5(SLC13A5):c.517G>A (p.Val173Met) rs2151494980
NM_177550.5(SLC13A5):c.533_538dup (p.Ala178_Lys179dup) rs1085307616
NM_177550.5(SLC13A5):c.556G>A (p.Val186Met)
NM_177550.5(SLC13A5):c.63G>T (p.Pro21=) rs1597686030
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695
NM_177550.5(SLC13A5):c.716+11_716+21del rs554361040
NM_177550.5(SLC13A5):c.716+198C>A rs147514246
NM_177550.5(SLC13A5):c.716+5G>A rs1057518298
NM_177550.5(SLC13A5):c.716+8C>T rs746595823
NM_177550.5(SLC13A5):c.746A>G (p.Asn249Ser) rs1051493638
NM_177550.5(SLC13A5):c.840-7T>C rs750657841
NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr) rs1057524830
NM_177550.5(SLC13A5):c.90G>T (p.Leu30=) rs758719176
NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly) rs769595777
NM_177550.5(SLC13A5):c.965G>A (p.Cys322Tyr) rs1085307860

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