ClinVar Miner

List of variants in gene SLC13A5 reported as likely benign for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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.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.103-14G>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.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.1137C>T (p.Phe379=)
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.1157-19_1157-18insTGTA
NM_177550.5(SLC13A5):c.1157-4C>A rs772441738
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.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+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.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.168G>A (p.Leu56=)
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.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+14C>T
NM_177550.5(SLC13A5):c.716+15G>T
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.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.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+7T>G
NM_177550.5(SLC13A5):c.839+8T>C
NM_177550.5(SLC13A5):c.849G>A (p.Lys283=) rs141681787
NM_177550.5(SLC13A5):c.858C>T (p.Gly286=)
NM_177550.5(SLC13A5):c.903G>A (p.Val301=)
NM_177550.5(SLC13A5):c.90G>A (p.Leu30=)
NM_177550.5(SLC13A5):c.981C>T (p.Val327=) rs2151487186
NM_177550.5(SLC13A5):c.987G>A (p.Leu329=) rs1597663120

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