ClinVar Miner

List of variants studied for epilepsy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00013
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr) rs546737191 0.00006
NM_018129.4(PNPO):c.413G>A (p.Arg138His) rs764940495 0.00005
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001182.5(ALDH7A1):c.965C>T (p.Ala322Val) rs777483675 0.00004
NM_018129.4(PNPO):c.482G>A (p.Arg161His) rs770981773 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu) rs375002796 0.00003
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter) rs1057519563 0.00003
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter) rs776248931 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu) rs994001880 0.00002
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) rs1064794241 0.00002
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) rs372660425 0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys) rs769266169 0.00002
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639 0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) rs555896752 0.00001
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter) rs1422381117 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_018129.4(PNPO):c.284G>A (p.Arg95His) rs552833222 0.00001
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NC_000002.11:g.(166150646_166152282)_(166198980_166201064)del
NC_000006.11:g.(?_105175968)_(105307795_?)del
NC_000007.13:g.(75687397_75689690)_(75696827_?)del
NC_000007.13:g.(?_75956115)_(75988309_?)del
NC_000009.11:g.(130420731_130422308)_(130428576_130430358)del
NC_000016.9:g.(180591_188148)_(188672_?)del
NC_000016.9:g.(?_135384)_139739del
NC_000019.9:g.(13470614_13476130)_(13566027_13616745)dup
NC_000020.10:g.(3194705_3195926)_(3195959_3199162)del
NC_000022.10:g.32217598_(32218777_32229900)del
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000197.2(HSD17B3):c.139A>G (p.Met47Val)
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_000817.3(GAD1):c.1297G>T (p.Gly433Ter)
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_001032221.6(STXBP1):c.478del (p.His160fs)
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001127221.2(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer) rs1568440440
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) rs1555757523
NM_001127222.2(CACNA1A):c.2070dup (p.Ile691fs)
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
NM_001127222.2(CACNA1A):c.3591dup (p.Glu1198fs)
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val) rs1568574634
NM_001134407.3(GRIN2A):c.703G>T (p.Glu235Ter) rs2044763223
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.126del (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp) rs796052271
NM_001182.5(ALDH7A1):c.1370G>T (p.Ser457Ile)
NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser)
NM_001182.5(ALDH7A1):c.1553G>C (p.Arg518Thr)
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) rs375491094
NM_001182.5(ALDH7A1):c.571A>G (p.Ile191Val) rs1060499755
NM_001182.5(ALDH7A1):c.605G>T (p.Gly202Val)
NM_001182.5(ALDH7A1):c.76_82del (p.Ala26fs) rs1373022366
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter) rs1204010423
NM_001184880.2(PCDH19):c.986_987del (p.His329fs)
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter) rs1603014708
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001271.4(CHD2):c.1154-1G>T
NM_001271.4(CHD2):c.2764del (p.Glu922fs) rs2141844216
NM_001278512.2(AP3B2):c.641delinsATG (p.Ile214fs)
NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001605.3(AARS1):c.1980dup (p.Glu661Ter)
NM_003705.5(SLC25A12):c.693del (p.Val232fs)
NM_004855.5(PIGB):c.91A>T (p.Lys31Ter)
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter) rs114903768
NM_005249.5(FOXG1):c.619A>T (p.Ile207Phe) rs2138661244
NM_005765.3(ATP6AP2):c.284C>A (p.Ser95Ter)
NM_006516.4(SLC2A1):c.2T>G (p.Met1Arg)
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro) rs794727642
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006545.5(NPRL2):c.57_58delinsC (p.Gly20fs) rs2109370013
NM_006772.3(SYNGAP1):c.3751C>T (p.Gln1251Ter)
NM_006772.3(SYNGAP1):c.3754C>T (p.Gln1252Ter)
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_018129.4(PNPO):c.246del (p.Leu83fs)
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys) rs146027425
NM_018129.4(PNPO):c.563dup (p.Asn188fs)
NM_020771.4(HACE1):c.859C>T (p.Gln287Ter)
NM_030948.6(PHACTR1):c.190C>G (p.Arg64Gly)
NM_031844.3(HNRNPU):c.1765del (p.Gln589fs)
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup) rs2147324381
NM_139058.3(ARX):c.451_464del (p.Ala151fs)
NM_139058.3(ARX):c.457del (p.Ala153fs)
NM_198904.4(GABRG2):c.892A>T (p.Lys298Ter)

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