ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 25 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00017
NM_177550.5(SLC13A5):c.4G>A (p.Ala2Thr) rs146396085 0.00013
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val) rs150517372 0.00013
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg) rs761215437 0.00008
NM_177550.5(SLC13A5):c.931C>T (p.Pro311Ser) rs201678684 0.00008
NM_177550.5(SLC13A5):c.1442G>A (p.Arg481His) rs762789388 0.00007
NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys) rs377270604 0.00006
NM_177550.5(SLC13A5):c.277G>A (p.Gly93Ser) rs201070023 0.00006
NM_177550.5(SLC13A5):c.1006G>A (p.Gly336Ser) rs1187250417 0.00004
NM_177550.5(SLC13A5):c.1441C>T (p.Arg481Cys) rs555139145 0.00004
NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala) rs569395560 0.00004
NM_177550.5(SLC13A5):c.286G>A (p.Val96Met) rs770640829 0.00004
NM_177550.5(SLC13A5):c.320A>G (p.Lys107Arg) rs376995742 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.920G>A (p.Arg307Gln) rs377021126 0.00004
NM_177550.5(SLC13A5):c.1172T>C (p.Phe391Ser) rs777258503 0.00003
NM_177550.5(SLC13A5):c.1334C>T (p.Pro445Leu) rs558866003 0.00003
NM_177550.5(SLC13A5):c.1450G>A (p.Gly484Ser) rs779942374 0.00003
NM_177550.5(SLC13A5):c.1645C>T (p.Arg549Trp) rs770090939 0.00003
NM_177550.5(SLC13A5):c.499G>A (p.Glu167Lys) rs373010067 0.00003
NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln) rs200275193 0.00003
NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu) rs759034052 0.00003
NM_177550.5(SLC13A5):c.1127A>G (p.Lys376Arg) rs370020005 0.00002
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser) rs765709852 0.00002
NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser) rs777285678 0.00002
NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val) rs143719876 0.00002
NM_177550.5(SLC13A5):c.1591A>G (p.Ile531Val) rs753629596 0.00002
NM_177550.5(SLC13A5):c.1628C>A (p.Ala543Asp) rs202208840 0.00002
NM_177550.5(SLC13A5):c.1673C>T (p.Pro558Leu) rs769020153 0.00002
NM_177550.5(SLC13A5):c.227G>A (p.Arg76Lys) rs778196660 0.00002
NM_177550.5(SLC13A5):c.368G>A (p.Arg123Gln) rs530676026 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_177550.5(SLC13A5):c.446T>C (p.Val149Ala) rs761377416 0.00002
NM_177550.5(SLC13A5):c.497C>A (p.Thr166Asn) rs758852137 0.00002
NM_177550.5(SLC13A5):c.802G>A (p.Ala268Thr) rs777184227 0.00002
NM_177550.5(SLC13A5):c.1002C>A (p.Asp334Glu) rs765942920 0.00001
NM_177550.5(SLC13A5):c.1033G>T (p.Ala345Ser) rs776529961 0.00001
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn) rs151050636 0.00001
NM_177550.5(SLC13A5):c.106G>A (p.Val36Ile) rs1354071715 0.00001
NM_177550.5(SLC13A5):c.1106T>C (p.Ile369Thr) rs773383980 0.00001
NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg) rs1423476132 0.00001
NM_177550.5(SLC13A5):c.1166C>T (p.Thr389Ile) rs748877090 0.00001
NM_177550.5(SLC13A5):c.1286T>G (p.Leu429Arg) rs1231356601 0.00001
NM_177550.5(SLC13A5):c.1309A>T (p.Met437Leu) rs980479909 0.00001
NM_177550.5(SLC13A5):c.1336G>C (p.Ala446Pro) rs1399161589 0.00001
NM_177550.5(SLC13A5):c.134T>C (p.Met45Thr) rs1208101006 0.00001
NM_177550.5(SLC13A5):c.1396G>A (p.Val466Met) rs750791192 0.00001
NM_177550.5(SLC13A5):c.1454T>G (p.Leu485Arg) rs148049520 0.00001
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu) rs779336736 0.00001
NM_177550.5(SLC13A5):c.1508T>C (p.Met503Thr) rs765088400 0.00001
NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met) rs201089077 0.00001
NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala) rs776701159 0.00001
NM_177550.5(SLC13A5):c.1575+5C>T rs778223098 0.00001
NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln) rs373799811 0.00001
NM_177550.5(SLC13A5):c.1691C>T (p.Thr564Ile) rs771551520 0.00001
NM_177550.5(SLC13A5):c.186G>A (p.Met62Ile) rs144640152 0.00001
NM_177550.5(SLC13A5):c.208T>C (p.Phe70Leu) rs1458426377 0.00001
NM_177550.5(SLC13A5):c.264G>A (p.Met88Ile) rs1414544534 0.00001
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) rs529524270 0.00001
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00001
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_177550.5(SLC13A5):c.335G>A (p.Arg112His) rs772720272 0.00001
NM_177550.5(SLC13A5):c.358A>G (p.Lys120Glu) rs777351597 0.00001
NM_177550.5(SLC13A5):c.361C>A (p.Pro121Thr) rs368701407 0.00001
NM_177550.5(SLC13A5):c.468G>T (p.Leu156Phe) rs774491349 0.00001
NM_177550.5(SLC13A5):c.490G>A (p.Ala164Thr) rs769026137 0.00001
NM_177550.5(SLC13A5):c.496A>G (p.Thr166Ala) rs1415995914 0.00001
NM_177550.5(SLC13A5):c.52T>C (p.Phe18Leu) rs1249830087 0.00001
NM_177550.5(SLC13A5):c.547+6C>T rs372687638 0.00001
NM_177550.5(SLC13A5):c.569G>A (p.Gly190Asp) rs766313348 0.00001
NM_177550.5(SLC13A5):c.581G>A (p.Gly194Glu) rs772459786 0.00001
NM_177550.5(SLC13A5):c.618_626dup (p.Ala207_Thr209dup) rs1490001751 0.00001
NM_177550.5(SLC13A5):c.650G>A (p.Ser217Asn) rs1200030293 0.00001
NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile) rs182042247 0.00001
NM_177550.5(SLC13A5):c.689A>G (p.Asn230Ser) rs760650951 0.00001
NM_177550.5(SLC13A5):c.691G>A (p.Val231Met) rs759705331 0.00001
NM_177550.5(SLC13A5):c.712A>G (p.Asn238Asp) rs747576233 0.00001
NM_177550.5(SLC13A5):c.742G>A (p.Val248Met) rs1295906896 0.00001
NM_177550.5(SLC13A5):c.901G>A (p.Val301Met) rs1973547380 0.00001
NM_177550.5(SLC13A5):c.944C>T (p.Ala315Val) rs138841868 0.00001
NM_177550.5(SLC13A5):c.955G>A (p.Val319Met) rs199612064 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
NC_000017.10:g.(?_5289526)_(6616652_?)dup
NC_000017.10:g.(?_6328780)_(7128416_?)dup
NC_000017.10:g.(?_6607177)_(6616652_?)dup
NC_000017.11:g.(?_6686187)_(6713353_?)dup
NM_177550.5(SLC13A5):c.1000G>T (p.Asp334Tyr) rs1183731879
NM_177550.5(SLC13A5):c.1015C>A (p.Pro339Thr)
NM_177550.5(SLC13A5):c.102G>A (p.Lys34=) rs2151505650
NM_177550.5(SLC13A5):c.1052C>A (p.Thr351Lys)
NM_177550.5(SLC13A5):c.1087G>A (p.Val363Met) rs2151485566
NM_177550.5(SLC13A5):c.1093A>C (p.Thr365Pro)
NM_177550.5(SLC13A5):c.1094C>T (p.Thr365Ile) rs760586654
NM_177550.5(SLC13A5):c.1097T>C (p.Leu366Pro)
NM_177550.5(SLC13A5):c.10G>C (p.Ala4Pro) rs2151505878
NM_177550.5(SLC13A5):c.111G>C (p.Arg37Ser) rs2151498848
NM_177550.5(SLC13A5):c.1126A>G (p.Lys376Glu)
NM_177550.5(SLC13A5):c.1139G>A (p.Arg380His) rs747458897
NM_177550.5(SLC13A5):c.1139G>T (p.Arg380Leu) rs747458897
NM_177550.5(SLC13A5):c.1150G>A (p.Glu384Lys) rs1461948332
NM_177550.5(SLC13A5):c.1156+3A>G
NM_177550.5(SLC13A5):c.1156+5G>A
NM_177550.5(SLC13A5):c.1162A>G (p.Lys388Glu) rs756710649
NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu) rs1973458109
NM_177550.5(SLC13A5):c.1181C>T (p.Pro394Leu)
NM_177550.5(SLC13A5):c.1198A>C (p.Lys400Gln) rs1597659809
NM_177550.5(SLC13A5):c.1199A>T (p.Lys400Met) rs1973457144
NM_177550.5(SLC13A5):c.11C>T (p.Ala4Val) rs1356594210
NM_177550.5(SLC13A5):c.1219C>T (p.Pro407Ser) rs974605915
NM_177550.5(SLC13A5):c.1231G>A (p.Val411Met) rs1207618696
NM_177550.5(SLC13A5):c.1240C>G (p.Leu414Val) rs1206208725
NM_177550.5(SLC13A5):c.1241T>C (p.Leu414Pro)
NM_177550.5(SLC13A5):c.124A>C (p.Ile42Leu) rs2151498818
NM_177550.5(SLC13A5):c.1252T>A (p.Phe418Ile)
NM_177550.5(SLC13A5):c.1258C>G (p.Leu420Val)
NM_177550.5(SLC13A5):c.1259T>C (p.Leu420Pro) rs150738356
NM_177550.5(SLC13A5):c.1273G>A (p.Glu425Lys) rs754804579
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.1300G>C (p.Gly434Arg) rs759705304
NM_177550.5(SLC13A5):c.1308_1322del (p.Gln436_Leu440del) rs1197782289
NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr) rs373587508
NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser)
NM_177550.5(SLC13A5):c.1357T>A (p.Ser453Thr) rs2150964801
NM_177550.5(SLC13A5):c.1362G>C (p.Leu454Phe) rs778880558
NM_177550.5(SLC13A5):c.1363C>T (p.Leu455Phe) rs1386156410
NM_177550.5(SLC13A5):c.137C>T (p.Ala46Val) rs762903735
NM_177550.5(SLC13A5):c.1403C>A (p.Thr468Asn)
NM_177550.5(SLC13A5):c.1405A>G (p.Thr469Ala) rs1475919318
NM_177550.5(SLC13A5):c.1411T>G (p.Leu471Val) rs1209800037
NM_177550.5(SLC13A5):c.1414T>C (p.Phe472Leu)
NM_177550.5(SLC13A5):c.1423A>G (p.Ile475Val)
NM_177550.5(SLC13A5):c.1437G>A (p.Met479Ile)
NM_177550.5(SLC13A5):c.1438-3C>A
NM_177550.5(SLC13A5):c.1438-4G>T
NM_177550.5(SLC13A5):c.1438T>C (p.Ser480Pro) rs2150961873
NM_177550.5(SLC13A5):c.1445C>T (p.Ser482Phe) rs1236635295
NM_177550.5(SLC13A5):c.1454T>C (p.Leu485Pro) rs148049520
NM_177550.5(SLC13A5):c.1457A>G (p.Asn486Ser)
NM_177550.5(SLC13A5):c.1462C>A (p.Leu488Met) rs754295995
NM_177550.5(SLC13A5):c.1471A>C (p.Met491Leu)
NM_177550.5(SLC13A5):c.1483_1491del (p.Thr495_Ser497del) rs1255190713
NM_177550.5(SLC13A5):c.1484C>T (p.Thr495Ile)
NM_177550.5(SLC13A5):c.1519G>T (p.Ala507Ser)
NM_177550.5(SLC13A5):c.1558C>T (p.Leu520Phe) rs779246920
NM_177550.5(SLC13A5):c.1564G>A (p.Val522Ile) rs1221511903
NM_177550.5(SLC13A5):c.1573A>C (p.Met525Leu)
NM_177550.5(SLC13A5):c.1575+4A>T
NM_177550.5(SLC13A5):c.1585G>A (p.Gly529Arg)
NM_177550.5(SLC13A5):c.1599C>A (p.Asn533Lys) rs1973250595
NM_177550.5(SLC13A5):c.1600A>G (p.Ile534Val) rs1973250507
NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met)
NM_177550.5(SLC13A5):c.1606G>A (p.Gly536Arg)
NM_177550.5(SLC13A5):c.1615T>C (p.Cys539Arg) rs1597651569
NM_177550.5(SLC13A5):c.1622T>C (p.Phe541Ser)
NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys)
NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu)
NM_177550.5(SLC13A5):c.1687G>A (p.Val563Met) rs1973247421
NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer) rs1311685227
NM_177550.5(SLC13A5):c.169G>T (p.Ala57Ser) rs1223073326
NM_177550.5(SLC13A5):c.1705T>C (p.Ter569Gln) rs2150960732
NM_177550.5(SLC13A5):c.175_192del (p.Thr59_Val64del) rs1973889353
NM_177550.5(SLC13A5):c.178T>C (p.Ser60Pro) rs1973889704
NM_177550.5(SLC13A5):c.190G>A (p.Val64Ile) rs376024540
NM_177550.5(SLC13A5):c.20A>G (p.Tyr7Cys) rs568118247
NM_177550.5(SLC13A5):c.215T>C (p.Ile72Thr)
NM_177550.5(SLC13A5):c.221A>G (p.Asp74Gly)
NM_177550.5(SLC13A5):c.239T>C (p.Val80Ala) rs930818882
NM_177550.5(SLC13A5):c.248T>G (p.Met83Arg) rs1973877779
NM_177550.5(SLC13A5):c.253G>A (p.Asp85Asn) rs2151498276
NM_177550.5(SLC13A5):c.25T>G (p.Ser9Ala) rs2151505845
NM_177550.5(SLC13A5):c.262A>C (p.Met88Leu) rs919457838
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) rs1597676768
NM_177550.5(SLC13A5):c.304C>T (p.Arg102Cys) rs1435998726
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys) rs750520927
NM_177550.5(SLC13A5):c.313C>A (p.Leu105Met) rs765334582
NM_177550.5(SLC13A5):c.325A>G (p.Ile109Val) rs1973874074
NM_177550.5(SLC13A5):c.327C>G (p.Ile109Met) rs761010502
NM_177550.5(SLC13A5):c.334C>T (p.Arg112Cys) rs372771266
NM_177550.5(SLC13A5):c.356C>A (p.Ala119Asp)
NM_177550.5(SLC13A5):c.362C>T (p.Pro121Leu) rs1973871631
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp) rs754937425
NM_177550.5(SLC13A5):c.374T>G (p.Met125Arg)
NM_177550.5(SLC13A5):c.382T>C (p.Phe128Leu) rs771925824
NM_177550.5(SLC13A5):c.393C>T (p.Val131=)
NM_177550.5(SLC13A5):c.3G>A (p.Met1Ile) rs1597686195
NM_177550.5(SLC13A5):c.429_437del (p.Thr144_Ala146del) rs769931974
NM_177550.5(SLC13A5):c.436G>C (p.Ala146Pro)
NM_177550.5(SLC13A5):c.43G>A (p.Val15Met) rs1223974189
NM_177550.5(SLC13A5):c.451A>G (p.Ile151Val)
NM_177550.5(SLC13A5):c.454G>C (p.Val152Leu)
NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup) rs748215544
NM_177550.5(SLC13A5):c.487A>G (p.Ser163Gly) rs1973790070
NM_177550.5(SLC13A5):c.499G>C (p.Glu167Gln) rs373010067
NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val)
NM_177550.5(SLC13A5):c.512A>G (p.Glu171Gly) rs1412352155
NM_177550.5(SLC13A5):c.517G>A (p.Val173Met) rs2151494980
NM_177550.5(SLC13A5):c.51G>C (p.Leu17Phe) rs941552722
NM_177550.5(SLC13A5):c.522C>G (p.Asp174Glu) rs1160099071
NM_177550.5(SLC13A5):c.526G>T (p.Gly176Cys) rs1973787933
NM_177550.5(SLC13A5):c.547+6C>A
NM_177550.5(SLC13A5):c.568G>A (p.Gly190Ser) rs1973761446
NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp) rs142320179
NM_177550.5(SLC13A5):c.608G>A (p.Arg203Lys)
NM_177550.5(SLC13A5):c.61C>G (p.Pro21Ala) rs1567628652
NM_177550.5(SLC13A5):c.623T>C (p.Met208Thr) rs1973759255
NM_177550.5(SLC13A5):c.629T>C (p.Leu210Pro)
NM_177550.5(SLC13A5):c.643G>A (p.Ala215Thr) rs1271011718
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695
NM_177550.5(SLC13A5):c.664G>A (p.Ala222Thr) rs201674669
NM_177550.5(SLC13A5):c.714C>A (p.Asn238Lys) rs754553205
NM_177550.5(SLC13A5):c.715G>A (p.Glu239Lys)
NM_177550.5(SLC13A5):c.716A>G (p.Glu239Gly) rs1973754222
NM_177550.5(SLC13A5):c.723T>G (p.Phe241Leu)
NM_177550.5(SLC13A5):c.737A>G (p.Asp246Gly) rs778721131
NM_177550.5(SLC13A5):c.748T>C (p.Phe250Leu) rs2151492071
NM_177550.5(SLC13A5):c.761T>G (p.Phe254Cys) rs763190407
NM_177550.5(SLC13A5):c.781A>G (p.Met261Val)
NM_177550.5(SLC13A5):c.807G>T (p.Trp269Cys)
NM_177550.5(SLC13A5):c.831G>A (p.Met277Ile) rs1973697429
NM_177550.5(SLC13A5):c.839+4A>C rs1973697168
NM_177550.5(SLC13A5):c.872G>A (p.Ser291Asn)
NM_177550.5(SLC13A5):c.882C>A (p.Asn294Lys)
NM_177550.5(SLC13A5):c.883G>A (p.Glu295Lys) rs749077002
NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr) rs1057524830
NM_177550.5(SLC13A5):c.89T>C (p.Leu30Pro)
NM_177550.5(SLC13A5):c.8C>G (p.Ser3Trp)
NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly) rs769595777
NM_177550.5(SLC13A5):c.919C>T (p.Arg307Trp) rs769595777
NM_177550.5(SLC13A5):c.944C>A (p.Ala315Glu) rs138841868
NM_177550.5(SLC13A5):c.949A>T (p.Ile317Phe)
NM_177550.5(SLC13A5):c.98C>A (p.Ala33Asp)

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