ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172 0.00067
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) rs200007766 0.00007
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 0.00005
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651 0.00002
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) rs1187024375 0.00001
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly) rs1273711716 0.00001
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs) rs779219028 0.00001
NM_005045.4(RELN):c.1653T>A (p.Asn551Lys) rs1417611613 0.00001
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys) rs750252271 0.00001
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter) rs1027289865 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1
NM_000744.7(CHRNA4):c.479C>G (p.Ser160Cys) rs201421555
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln) rs1898813434
NM_001077350.3(NPRL3):c.118+3_118+6del rs1312109237
NM_001077350.3(NPRL3):c.119-1G>C rs2141981312
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs) rs1288771812
NM_001077350.3(NPRL3):c.189-1G>A rs1900184374
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro) rs1899872500
NM_001077350.3(NPRL3):c.547+1G>C rs1899864955
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
NM_001077350.3(NPRL3):c.630-1G>A rs1899235603
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
NM_001077350.3(NPRL3):c.768-2del rs1899110688
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter) rs2141920098
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met) rs2133805364
NM_001112741.2(KCNC1):c.282G>T (p.Trp94Cys) rs1848764853
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser) rs1443427135
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter) rs1555455521
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1036A>T (p.Lys346Ter) rs2141482042
NM_001134407.3(GRIN2A):c.1123-1G>T rs2042854251
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln) rs2141369514
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs) rs2141346061
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1400T>A (p.Leu467His) rs2042668320
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>C rs2141344569
NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys) rs747838255
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)
NM_001134407.3(GRIN2A):c.1585del (p.Val529fs) rs2141342590
NM_001134407.3(GRIN2A):c.1586del (p.Val529fs) rs2141342580
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val) rs1085307961
NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter) rs2141342254
NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr) rs1057523843
NM_001134407.3(GRIN2A):c.1642G>C (p.Ala548Pro) rs1057523843
NM_001134407.3(GRIN2A):c.1651+1del rs2141341804
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter) rs1057521810
NM_001134407.3(GRIN2A):c.1686del (p.Phe562fs) rs2141325598
NM_001134407.3(GRIN2A):c.1692del (p.Met564fs) rs886039604
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter) rs143833346
NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs) rs2050235998
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs) rs2141313067
NM_001134407.3(GRIN2A):c.1818G>A (p.Trp606Ter) rs775819322
NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln) rs2141312803
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly) rs1555492763
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.1943A>G (p.Asn648Ser) rs796052545
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val) rs2141312286
NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile) rs2141312277
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.2007+1G>A rs2141312109
NM_001134407.3(GRIN2A):c.2007+2dup rs2141312103
NM_001134407.3(GRIN2A):c.2008-1G>T rs2141295189
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln) rs753203288
NM_001134407.3(GRIN2A):c.2047G>C (p.Gly683Arg)
NM_001134407.3(GRIN2A):c.2050A>G (p.Thr684Ala) rs796052547
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala) rs2141294973
NM_001134407.3(GRIN2A):c.2077A>G (p.Asn693Asp) rs2042303226
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr) rs2141294911
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln) rs1555491654
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val) rs2141294795
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly) rs1057518070
NM_001134407.3(GRIN2A):c.2140del (p.Glu714fs) rs2141294703
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2221A>G (p.Arg741Gly) rs1903135567
NM_001134407.3(GRIN2A):c.2253dup (p.Ser752fs) rs2141230698
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) rs776791010
NM_001134407.3(GRIN2A):c.2334_2338del (p.Leu779fs) rs2141230279
NM_001134407.3(GRIN2A):c.2335_2336delinsAG (p.Leu779Arg) rs1903126465
NM_001134407.3(GRIN2A):c.2336T>G (p.Leu779Trp) rs1555488084
NM_001134407.3(GRIN2A):c.2341_2343delinsAT (p.Gln781fs) rs2141230262
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2384G>A (p.Trp795Ter) rs1555483728
NM_001134407.3(GRIN2A):c.2407G>T (p.Glu803Ter) rs1198247451
NM_001134407.3(GRIN2A):c.2408del (p.Glu803fs) rs2141151209
NM_001134407.3(GRIN2A):c.2427C>A (p.Ser809Arg) rs1064795647
NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met) rs752241086
NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val) rs796052551
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
NM_001134407.3(GRIN2A):c.2844del (p.Gln950fs)
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3365G>A (p.Gly1122Asp) rs760885908
NM_001134407.3(GRIN2A):c.415-2A>G rs2141633312
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.500G>A (p.Trp167Ter) rs1555455776
NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser) rs2141632382
NM_001134407.3(GRIN2A):c.594G>A (p.Trp198Ter) rs1555455726
NM_001134407.3(GRIN2A):c.627del (p.Phe210fs) rs796052560
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg) rs2141631426
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs) rs2044762657
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs) rs2142390867
NM_001161352.2(KCNMA1):c.152C>T (p.Ser51Phe) rs2093884478
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu) rs200668674
NM_001161352.2(KCNMA1):c.2993A>G (p.Asn998Ser) rs2052158751
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs) rs2148801432
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2783C>T (p.Ala928Val) rs1250427988
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val) rs1419496771
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
NM_001242896.3(DEPDC5):c.767+1G>A rs2148514247
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
NM_005097.4(LGI1):c.187del (p.Arg63fs)
NM_005097.4(LGI1):c.253G>A (p.Gly85Arg) rs2133976199
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter) rs2059583625
NM_005097.4(LGI1):c.682_683del (p.Lys228fs)
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)
NM_005097.4(LGI1):c.790G>C (p.Glu264Gln)
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.586-3C>A rs775206926
NM_006545.5(NPRL2):c.683T>C (p.Leu228Pro) rs1559856358
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs) rs2109364484
NM_006922.4(SCN3A):c.3092T>A (p.Phe1031Tyr) rs1687091780
NM_020361.5(CPA6):c.619C>T (p.Gln207Ter) rs35993949
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala) rs751320619
NM_020822.3(KCNT1):c.2464C>T (p.Arg822Trp) rs746067661
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs) rs1443687532
NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)
NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly) rs1938359399

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