ClinVar Miner

List of variants in gene SLC13A5 reported as likely benign for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 312
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
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.1095C>G (p.Thr365=) rs139660928 0.00029
NM_177550.5(SLC13A5):c.232-7G>A rs376066820 0.00025
NM_177550.5(SLC13A5):c.642C>T (p.Tyr214=) rs148755614 0.00018
NM_177550.5(SLC13A5):c.741C>T (p.Leu247=) rs138520827 0.00017
NM_177550.5(SLC13A5):c.1156+9C>T rs201530285 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.1291G>A (p.Val431Met) rs201036096 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.321G>A (p.Lys107=) rs138023567 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.1074T>C (p.Thr358=) rs369156060 0.00007
NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=) rs374067396 0.00007
NM_177550.5(SLC13A5):c.1055+16A>C rs756534283 0.00006
NM_177550.5(SLC13A5):c.1068T>C (p.Asp356=) rs369080598 0.00006
NM_177550.5(SLC13A5):c.547+8C>T rs1270343571 0.00006
NM_177550.5(SLC13A5):c.548-17C>T rs761273591 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.1449C>T (p.Ile483=) rs769760541 0.00005
NM_177550.5(SLC13A5):c.498C>T (p.Thr166=) rs906604048 0.00005
NM_177550.5(SLC13A5):c.1156+20C>T rs368150158 0.00004
NM_177550.5(SLC13A5):c.1437+18G>A rs371350083 0.00004
NM_177550.5(SLC13A5):c.1560C>A (p.Leu520=) rs771239934 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.342C>T (p.Leu114=) rs774031315 0.00004
NM_177550.5(SLC13A5):c.489C>T (p.Ser163=) rs372231184 0.00004
NM_177550.5(SLC13A5):c.864G>A (p.Gly288=) rs910523768 0.00004
NM_177550.5(SLC13A5):c.945G>A (p.Ala315=) rs1057522909 0.00004
NM_177550.5(SLC13A5):c.1062C>T (p.Val354=) rs908065981 0.00003
NM_177550.5(SLC13A5):c.1206C>T (p.Thr402=) rs143869456 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.1485C>G (p.Thr495=) rs907914369 0.00003
NM_177550.5(SLC13A5):c.207C>T (p.Leu69=) rs560691044 0.00003
NM_177550.5(SLC13A5):c.368+9G>A rs764226590 0.00003
NM_177550.5(SLC13A5):c.654C>T (p.Ile218=) rs547998800 0.00003
NM_177550.5(SLC13A5):c.906G>T (p.Leu302=) rs1334051824 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.1179C>T (p.Pro393=) rs755751249 0.00002
NM_177550.5(SLC13A5):c.1275+7T>C rs537439213 0.00002
NM_177550.5(SLC13A5):c.1438-20G>A rs1329698702 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.313C>T (p.Leu105=) rs765334582 0.00002
NM_177550.5(SLC13A5):c.368+8C>T rs754086132 0.00002
NM_177550.5(SLC13A5):c.390C>T (p.Gly130=) rs371499002 0.00002
NM_177550.5(SLC13A5):c.471G>A (p.Gln157=) rs367895721 0.00002
NM_177550.5(SLC13A5):c.675C>T (p.Thr225=) rs766223341 0.00002
NM_177550.5(SLC13A5):c.744G>C (p.Val248=) rs755035537 0.00002
NM_177550.5(SLC13A5):c.771C>T (p.Ala257=) rs1042746956 0.00002
NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=) rs200365614 0.00001
NM_177550.5(SLC13A5):c.102+8G>C rs765725969 0.00001
NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=) rs140940366 0.00001
NM_177550.5(SLC13A5):c.1125C>T (p.Pro375=) rs1483419923 0.00001
NM_177550.5(SLC13A5):c.1156+15C>G rs367721453 0.00001
NM_177550.5(SLC13A5):c.1188G>A (p.Leu396=) rs570830621 0.00001
NM_177550.5(SLC13A5):c.1221C>T (p.Pro407=) rs547474199 0.00001
NM_177550.5(SLC13A5):c.1240C>T (p.Leu414=) rs1206208725 0.00001
NM_177550.5(SLC13A5):c.1272C>T (p.Ser424=) rs368030315 0.00001
NM_177550.5(SLC13A5):c.1276-17C>T rs1973392872 0.00001
NM_177550.5(SLC13A5):c.1318T>C (p.Leu440=) rs1341974633 0.00001
NM_177550.5(SLC13A5):c.1323C>T (p.His441=) rs368369308 0.00001
NM_177550.5(SLC13A5):c.132C>T (p.Leu44=) rs1258344040 0.00001
NM_177550.5(SLC13A5):c.1407C>A (p.Thr469=) rs1488808458 0.00001
NM_177550.5(SLC13A5):c.1438-18del rs759057646 0.00001
NM_177550.5(SLC13A5):c.1438-5C>T rs368120301 0.00001
NM_177550.5(SLC13A5):c.1530A>G (p.Pro510=) rs762703163 0.00001
NM_177550.5(SLC13A5):c.1575+10C>A rs576242281 0.00001
NM_177550.5(SLC13A5):c.1575+12G>A rs748598074 0.00001
NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=) rs766561824 0.00001
NM_177550.5(SLC13A5):c.1689G>A (p.Val563=) rs1567612268 0.00001
NM_177550.5(SLC13A5):c.276C>T (p.Gly92=) rs771703938 0.00001
NM_177550.5(SLC13A5):c.279C>G (p.Gly93=) rs1253377106 0.00001
NM_177550.5(SLC13A5):c.327C>T (p.Ile109=) rs761010502 0.00001
NM_177550.5(SLC13A5):c.369-13C>T rs1387018006 0.00001
NM_177550.5(SLC13A5):c.369-9C>A rs1301686731 0.00001
NM_177550.5(SLC13A5):c.453C>T (p.Ile151=) rs144523287 0.00001
NM_177550.5(SLC13A5):c.466T>C (p.Leu156=) rs1284550674 0.00001
NM_177550.5(SLC13A5):c.516G>A (p.Leu172=) rs1164489091 0.00001
NM_177550.5(SLC13A5):c.547+15A>G rs200767134 0.00001
NM_177550.5(SLC13A5):c.555A>G (p.Gln185=) rs752221899 0.00001
NM_177550.5(SLC13A5):c.576T>C (p.Thr192=) rs1274573548 0.00001
NM_177550.5(SLC13A5):c.645G>A (p.Ala215=) rs771306101 0.00001
NM_177550.5(SLC13A5):c.699C>T (p.Leu233=) rs200076864 0.00001
NM_177550.5(SLC13A5):c.69G>T (p.Leu23=) rs1280438112 0.00001
NM_177550.5(SLC13A5):c.702G>C (p.Leu234=) rs1353818031 0.00001
NM_177550.5(SLC13A5):c.717-6T>C rs779832945 0.00001
NM_177550.5(SLC13A5):c.861C>T (p.Cys287=) rs148018915 0.00001
NM_177550.5(SLC13A5):c.873C>T (p.Ser291=) rs767067775 0.00001
NM_177550.5(SLC13A5):c.942C>T (p.Phe314=) rs546617630 0.00001
NM_177550.5(SLC13A5):c.954C>T (p.Asn318=) rs764495638 0.00001
NC_000017.11:g.6702964ACTC[3]
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.1017C>G (p.Pro339=) rs200365614
NM_177550.5(SLC13A5):c.102+11T>A
NM_177550.5(SLC13A5):c.102+13del rs2151505633
NM_177550.5(SLC13A5):c.102+19C>A
NM_177550.5(SLC13A5):c.102+20A>G
NM_177550.5(SLC13A5):c.102+9C>T
NM_177550.5(SLC13A5):c.103-10G>A rs2151498872
NM_177550.5(SLC13A5):c.103-14G>A
NM_177550.5(SLC13A5):c.103-20C>G
NM_177550.5(SLC13A5):c.1053A>G (p.Thr351=)
NM_177550.5(SLC13A5):c.1055+10G>A
NM_177550.5(SLC13A5):c.1055+12A>G rs1567617699
NM_177550.5(SLC13A5):c.1055+14T>G
NM_177550.5(SLC13A5):c.1055+18T>C
NM_177550.5(SLC13A5):c.1056-15C>A
NM_177550.5(SLC13A5):c.1056-4C>A rs763014412
NM_177550.5(SLC13A5):c.1056-5C>T rs1597661291
NM_177550.5(SLC13A5):c.1056-6A>G rs1597661297
NM_177550.5(SLC13A5):c.1071C>T (p.Ala357=)
NM_177550.5(SLC13A5):c.1098G>A (p.Leu366=)
NM_177550.5(SLC13A5):c.1098G>T (p.Leu366=) rs1355898652
NM_177550.5(SLC13A5):c.1101A>T (p.Leu367=)
NM_177550.5(SLC13A5):c.1113T>C (p.Pro371=)
NM_177550.5(SLC13A5):c.1137C>T (p.Phe379=)
NM_177550.5(SLC13A5):c.1152G>A (p.Glu384=)
NM_177550.5(SLC13A5):c.1156+10C>T
NM_177550.5(SLC13A5):c.1156+11T>G rs1172086493
NM_177550.5(SLC13A5):c.1156+20C>A rs368150158
NM_177550.5(SLC13A5):c.1156+7C>A
NM_177550.5(SLC13A5):c.1157-16T>G
NM_177550.5(SLC13A5):c.1157-17_1157-16insTGTGTGT
NM_177550.5(SLC13A5):c.1157-19_1157-18insTGTA
NM_177550.5(SLC13A5):c.1157-4C>A rs772441738
NM_177550.5(SLC13A5):c.1157-5C>T
NM_177550.5(SLC13A5):c.1157-68GT[12]
NM_177550.5(SLC13A5):c.1157-68GT[13] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[14] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[16] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[17] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[19] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[23] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[27] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[28] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[29] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[30] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[31] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[32] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[33] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[34] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[35] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[36] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[38]
NM_177550.5(SLC13A5):c.1157-68GT[8]
NM_177550.5(SLC13A5):c.1157-68GT[9]
NM_177550.5(SLC13A5):c.1182T>A (p.Pro394=)
NM_177550.5(SLC13A5):c.1189C>T (p.Leu397=)
NM_177550.5(SLC13A5):c.1206C>G (p.Thr402=)
NM_177550.5(SLC13A5):c.1218G>A (p.Val406=)
NM_177550.5(SLC13A5):c.1242A>G (p.Leu414=)
NM_177550.5(SLC13A5):c.1248C>A (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.1248C>G (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.1248C>T (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.1275+15C>T rs2150966936
NM_177550.5(SLC13A5):c.1275+9T>A
NM_177550.5(SLC13A5):c.1275+9_1275+70del rs2150966895
NM_177550.5(SLC13A5):c.1276-11G>A rs1597657068
NM_177550.5(SLC13A5):c.1276-15C>T
NM_177550.5(SLC13A5):c.1276-9G>T
NM_177550.5(SLC13A5):c.1290C>G (p.Ser430=) rs756166033
NM_177550.5(SLC13A5):c.1335G>A (p.Pro445=) rs138802643
NM_177550.5(SLC13A5):c.1335G>C (p.Pro445=) rs138802643
NM_177550.5(SLC13A5):c.1341C>T (p.Ala447=)
NM_177550.5(SLC13A5):c.1348T>C (p.Leu450=)
NM_177550.5(SLC13A5):c.1356G>A (p.Leu452=)
NM_177550.5(SLC13A5):c.1371C>T (p.Ala457=)
NM_177550.5(SLC13A5):c.1383G>A (p.Glu461=)
NM_177550.5(SLC13A5):c.1422C>T (p.Pro474=) rs2150964713
NM_177550.5(SLC13A5):c.1428T>C (p.Phe476=) rs1450058801
NM_177550.5(SLC13A5):c.1437+11T>C
NM_177550.5(SLC13A5):c.1437+15del rs1555540915
NM_177550.5(SLC13A5):c.1437+20G>A
NM_177550.5(SLC13A5):c.1437+20G>C
NM_177550.5(SLC13A5):c.1437+9C>T rs1216705623
NM_177550.5(SLC13A5):c.1438-19C>T
NM_177550.5(SLC13A5):c.1461G>T (p.Pro487=)
NM_177550.5(SLC13A5):c.1464G>A (p.Leu488=)
NM_177550.5(SLC13A5):c.1494C>T (p.Ala498=) rs1046475172
NM_177550.5(SLC13A5):c.1497C>A (p.Ser499=) rs949451311
NM_177550.5(SLC13A5):c.1510T>C (p.Leu504=) rs759151984
NM_177550.5(SLC13A5):c.1524C>T (p.Thr508=) rs2150961768
NM_177550.5(SLC13A5):c.1536C>T (p.Ala512=) rs1973282772
NM_177550.5(SLC13A5):c.1563G>A (p.Lys521=) rs1597653033
NM_177550.5(SLC13A5):c.1575+8A>G
NM_177550.5(SLC13A5):c.1576-20T>A rs2150960911
NM_177550.5(SLC13A5):c.1576-4C>G
NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=)
NM_177550.5(SLC13A5):c.1632C>T (p.Val544=) rs1597651519
NM_177550.5(SLC13A5):c.1674T>C (p.Pro558=)
NM_177550.5(SLC13A5):c.168G>A (p.Leu56=)
NM_177550.5(SLC13A5):c.1698T>C (p.Ile566=)
NM_177550.5(SLC13A5):c.1707G>A (p.Ter569=)
NM_177550.5(SLC13A5):c.171T>C (p.Ala57=) rs1379801780
NM_177550.5(SLC13A5):c.201C>T (p.Phe67=) rs900258843
NM_177550.5(SLC13A5):c.21T>C (p.Tyr7=)
NM_177550.5(SLC13A5):c.231+12C>T
NM_177550.5(SLC13A5):c.231+20C>G
NM_177550.5(SLC13A5):c.231+20C>T
NM_177550.5(SLC13A5):c.232-4C>A
NM_177550.5(SLC13A5):c.232-5T>A
NM_177550.5(SLC13A5):c.232-8_232-7delinsTA rs2151498313
NM_177550.5(SLC13A5):c.234G>A (p.Val78=)
NM_177550.5(SLC13A5):c.237T>C (p.Cys79=) rs768939788
NM_177550.5(SLC13A5):c.24C>A (p.Val8=) rs2151505851
NM_177550.5(SLC13A5):c.252G>A (p.Lys84=)
NM_177550.5(SLC13A5):c.267G>C (p.Leu89=)
NM_177550.5(SLC13A5):c.271C>T (p.Leu91=)
NM_177550.5(SLC13A5):c.276C>A (p.Gly92=) rs771703938
NM_177550.5(SLC13A5):c.279C>T (p.Gly93=)
NM_177550.5(SLC13A5):c.291C>T (p.Ala97=)
NM_177550.5(SLC13A5):c.303G>A (p.Glu101=)
NM_177550.5(SLC13A5):c.312C>T (p.Asn104=)
NM_177550.5(SLC13A5):c.318C>T (p.His106=) rs1973874419
NM_177550.5(SLC13A5):c.339G>A (p.Thr113=)
NM_177550.5(SLC13A5):c.366A>G (p.Ala122=)
NM_177550.5(SLC13A5):c.368+12T>C
NM_177550.5(SLC13A5):c.368+15T>C
NM_177550.5(SLC13A5):c.368+16C>G
NM_177550.5(SLC13A5):c.368+9G>T
NM_177550.5(SLC13A5):c.369-19C>G
NM_177550.5(SLC13A5):c.378G>C (p.Leu126=)
NM_177550.5(SLC13A5):c.39C>G (p.Ser13=) rs2151505818
NM_177550.5(SLC13A5):c.417C>T (p.Ile139=)
NM_177550.5(SLC13A5):c.426G>C (p.Thr142=)
NM_177550.5(SLC13A5):c.426G>T (p.Thr142=) rs72836208
NM_177550.5(SLC13A5):c.435G>A (p.Thr145=)
NM_177550.5(SLC13A5):c.450C>T (p.Pro150=)
NM_177550.5(SLC13A5):c.459G>A (p.Glu153=) rs1057521689
NM_177550.5(SLC13A5):c.486A>G (p.Thr162=) rs1438628302
NM_177550.5(SLC13A5):c.48C>T (p.Ile16=)
NM_177550.5(SLC13A5):c.522C>T (p.Asp174=)
NM_177550.5(SLC13A5):c.547+19C>T
NM_177550.5(SLC13A5):c.547+9C>T rs1203815263
NM_177550.5(SLC13A5):c.548-10C>T rs2151494144
NM_177550.5(SLC13A5):c.548-11G>C
NM_177550.5(SLC13A5):c.548-13G>C
NM_177550.5(SLC13A5):c.548-14T>G
NM_177550.5(SLC13A5):c.548-16G>A
NM_177550.5(SLC13A5):c.548-16G>T
NM_177550.5(SLC13A5):c.548-20C>T
NM_177550.5(SLC13A5):c.561T>A (p.Ile187=)
NM_177550.5(SLC13A5):c.561T>C (p.Ile187=)
NM_177550.5(SLC13A5):c.570C>A (p.Gly190=)
NM_177550.5(SLC13A5):c.570C>T (p.Gly190=)
NM_177550.5(SLC13A5):c.582G>C (p.Gly194=) rs147260918
NM_177550.5(SLC13A5):c.601C>A (p.Arg201=)
NM_177550.5(SLC13A5):c.609G>A (p.Arg203=) rs2151494038
NM_177550.5(SLC13A5):c.60C>G (p.Thr20=)
NM_177550.5(SLC13A5):c.627C>A (p.Thr209=) rs1259516551
NM_177550.5(SLC13A5):c.627C>T (p.Thr209=)
NM_177550.5(SLC13A5):c.648C>T (p.Ala216=)
NM_177550.5(SLC13A5):c.657G>A (p.Gly219=)
NM_177550.5(SLC13A5):c.666C>T (p.Ala222=) rs1973756878
NM_177550.5(SLC13A5):c.669C>A (p.Thr223=) rs1425515226
NM_177550.5(SLC13A5):c.669C>T (p.Thr223=) rs1425515226
NM_177550.5(SLC13A5):c.66C>T (p.Leu22=)
NM_177550.5(SLC13A5):c.705C>T (p.Gly235=) rs1375520259
NM_177550.5(SLC13A5):c.716+11G>A
NM_177550.5(SLC13A5):c.716+11G>T
NM_177550.5(SLC13A5):c.716+14C>A
NM_177550.5(SLC13A5):c.716+14C>T
NM_177550.5(SLC13A5):c.716+15G>T
NM_177550.5(SLC13A5):c.716+18C>A
NM_177550.5(SLC13A5):c.716+19C>T
NM_177550.5(SLC13A5):c.716+8C>T rs746595823
NM_177550.5(SLC13A5):c.717-18G>T
NM_177550.5(SLC13A5):c.717-20G>A rs777013140
NM_177550.5(SLC13A5):c.717-4G>A
NM_177550.5(SLC13A5):c.717G>A (p.Glu239=)
NM_177550.5(SLC13A5):c.718T>C (p.Leu240=)
NM_177550.5(SLC13A5):c.72G>A (p.Leu24=)
NM_177550.5(SLC13A5):c.750T>C (p.Phe250=) rs2151492066
NM_177550.5(SLC13A5):c.780C>T (p.Asn260=)
NM_177550.5(SLC13A5):c.793C>T (p.Leu265=)
NM_177550.5(SLC13A5):c.816C>T (p.Leu272=)
NM_177550.5(SLC13A5):c.822T>C (p.Phe274=)
NM_177550.5(SLC13A5):c.839+16T>C
NM_177550.5(SLC13A5):c.839+18A>G
NM_177550.5(SLC13A5):c.839+7T>G
NM_177550.5(SLC13A5):c.839+8T>C
NM_177550.5(SLC13A5):c.840-9A>G
NM_177550.5(SLC13A5):c.849G>A (p.Lys283=) rs141681787
NM_177550.5(SLC13A5):c.858C>T (p.Gly286=)
NM_177550.5(SLC13A5):c.894C>T (p.Ala298=)
NM_177550.5(SLC13A5):c.903G>A (p.Val301=)
NM_177550.5(SLC13A5):c.90G>A (p.Leu30=)
NM_177550.5(SLC13A5):c.951C>A (p.Ile317=)
NM_177550.5(SLC13A5):c.981C>T (p.Val327=) rs2151487186
NM_177550.5(SLC13A5):c.987G>A (p.Leu329=) rs1597663120
NM_177550.5(SLC13A5):c.9G>A (p.Ser3=) rs1318559097

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.