ClinVar Miner

List of variants reported as likely pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 431
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_004287.5(GOSR2):c.204-7A>G rs746177544 0.00004
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser) rs780082503 0.00002
NM_000100.4(CSTB):c.10G>T (p.Gly4Trp) rs74315443 0.00001
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter) rs386833439 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val) rs1485166517 0.00001
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs) rs779219028 0.00001
NM_001242896.3(DEPDC5):c.695-1G>T rs1265464096 0.00001
NM_005045.4(RELN):c.3912+2T>G rs1226957030 0.00001
NM_005045.4(RELN):c.7349+2T>C rs982831716 0.00001
NM_005076.5(CNTN2):c.1241-1G>C rs1553345874 0.00001
NM_005076.5(CNTN2):c.2432-2A>G rs1196223064 0.00001
NM_005506.4(SCARB2):c.994+2T>C rs1168653552 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp) rs775807509 0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp) rs375711140 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg) rs750033880 0.00001
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.456G>A (p.Val152=) rs796052686 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp) rs750770298 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153033.5(KCTD7):c.551G>A (p.Arg184His) rs747676224 0.00001
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter) rs769144119 0.00001
NM_198904.4(GABRG2):c.631+1254C>T rs886645578 0.00001
GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1
NC_000007.13:g.(?_66098242)_(66098451_?)dup
NC_000007.14:g.(?_103589576)_(103610827_?)dup
NC_000010.10:g.(?_78943159)_(78944694_?)dup
NC_000010.10:g.(?_78998319)_(79163801_?)dup
NC_000010.10:g.(?_95549836)_(95549947_?)del
NC_000016.9:g.(180591_188148)_(188672_?)del
NC_000016.9:g.(?_138677)_(188266_?)dup
NC_000016.9:g.(?_139774)_(159866_?)del
NC_000016.9:g.(?_148123)_(169274_?)dup
NC_000022.10:g.(?_32156622)_(32162674_?)dup
NC_000022.10:g.(?_32179873)_(32266750_?)dup
NC_000022.10:g.(?_32210968)_(32211208_?)dup
NC_000022.10:g.(?_32217594)_(32219450_?)del
NC_000022.10:g.(?_32226416)_(32233136_?)del
NC_000022.10:g.(?_32253411)_(32275758_?)dup
NC_000022.10:g.32217598_(32218777_32229900)del
NC_000022.11:g.(?_31778079)_(31792837_?)del
NC_000022.11:g.(?_31901722)_(31901822_?)del
NC_000022.11:g.(?_32200123)_(32200234_?)del
NM_000100.4(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.4(CSTB):c.169-2A>G rs386833441
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.4(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000217.3(KCNA1):c.1186G>C (p.Gly396Arg) rs2137673957
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.3(CHRNB2):c.256-1G>A
NM_000748.3(CHRNB2):c.845T>A (p.Leu282His) rs1696167453
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_001077350.3(NPRL3):c.1031+2_1031+3del rs2141909104
NM_001077350.3(NPRL3):c.1161+1G>A
NM_001077350.3(NPRL3):c.118+1G>A
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
NM_001077350.3(NPRL3):c.119-1G>C rs2141981312
NM_001077350.3(NPRL3):c.119-2A>G rs1361784389
NM_001077350.3(NPRL3):c.1217_1351+24delinsC rs2141901872
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs) rs1288771812
NM_001077350.3(NPRL3):c.1352-10_1368del
NM_001077350.3(NPRL3):c.1544+1del rs1898611246
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs) rs2141895084
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001077350.3(NPRL3):c.319-1G>A
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro) rs1899872500
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter) rs1596522356
NM_001077350.3(NPRL3):c.547+1G>A rs1899864955
NM_001077350.3(NPRL3):c.547+1G>C rs1899864955
NM_001077350.3(NPRL3):c.547+2T>A
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
NM_001077350.3(NPRL3):c.591_629+634del rs1899713412
NM_001077350.3(NPRL3):c.629+1G>A rs2141946055
NM_001077350.3(NPRL3):c.629+1G>T rs2141946055
NM_001077350.3(NPRL3):c.630-1G>A rs1899235603
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
NM_001077350.3(NPRL3):c.768-1G>A
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001077350.3(NPRL3):c.925-1G>C rs1898844907
NM_001077350.3(NPRL3):c.925-2A>G rs1431914212
NM_001077350.3(NPRL3):c.925-2A>T rs1431914212
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)
NM_001112741.2(KCNC1):c.108del (p.Trp36fs) rs1590088831
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met) rs2133805364
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs) rs1590106815
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp) rs756544748
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala) rs1565162623
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) rs1581220163
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter) rs1555455521
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1008-2A>G rs2043686667
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.1273del (p.Pro424_Leu425insTer) rs879253760
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1328+2T>C rs2042847630
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser) rs1596494610
NM_001134407.3(GRIN2A):c.1329-1G>C
NM_001134407.3(GRIN2A):c.1329-2A>C rs2141346217
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs) rs2141346061
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn) rs1567337914
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.1532C>T (p.Ser511Leu) rs267604688
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.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.1630G>A (p.Val544Ile) rs2141342055
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.1652-2A>G rs2141325752
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.1678ATG[1] (p.Met561del) rs1057519248
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.1777+1G>C rs2141325180
NM_001134407.3(GRIN2A):c.1777+2T>C rs2141325169
NM_001134407.3(GRIN2A):c.1778-2A>C rs2141313144
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs) rs2141313067
NM_001134407.3(GRIN2A):c.1788_1789insGTG (p.Gly596_Pro597insVal) rs2042451238
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.1849G>A (p.Val617Met)
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp) rs2042448930
NM_001134407.3(GRIN2A):c.1924C>A (p.Leu642Met) rs796052562
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+1G>T
NM_001134407.3(GRIN2A):c.2007+1del rs1596471698
NM_001134407.3(GRIN2A):c.2007+2dup rs2141312103
NM_001134407.3(GRIN2A):c.2008-1G>T rs2141295189
NM_001134407.3(GRIN2A):c.2008-2A>C
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.2050A>G (p.Thr684Ala) rs796052547
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala) rs2141294973
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2075_2116dup (p.Arg692_Met705dup) rs2141294782
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.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.2147C>T (p.Ala716Val)
NM_001134407.3(GRIN2A):c.2168+1G>C rs2141294532
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.2253dup (p.Ser752fs) rs2141230698
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2314A>G (p.Lys772Glu) rs1555488094
NM_001134407.3(GRIN2A):c.2326G>A (p.Asp776Asn)
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.2341_2343delinsAT (p.Gln781fs) rs2141230262
NM_001134407.3(GRIN2A):c.2356+1G>T rs2141230207
NM_001134407.3(GRIN2A):c.2357-2A>T
NM_001134407.3(GRIN2A):c.2365GAG[1] (p.Glu790del)
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.2452G>A (p.Ala818Thr) rs1555483699
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val) rs751455326
NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
NM_001134407.3(GRIN2A):c.255_256insCTCATGTCCGGG (p.His85_Val86insLeuMetSerGly) rs2142389389
NM_001134407.3(GRIN2A):c.2658T>A (p.Asn886Lys) rs1321794341
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe) rs1596586969
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134407.3(GRIN2A):c.3219del (p.Glu1073fs)
NM_001134407.3(GRIN2A):c.3426del (p.Glu1143fs)
NM_001134407.3(GRIN2A):c.3881A>T (p.Asn1294Ile)
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile) rs868762895
NM_001134407.3(GRIN2A):c.4067C>G (p.Ser1356Cys)
NM_001134407.3(GRIN2A):c.415-2A>G rs2141633312
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681
NM_001134407.3(GRIN2A):c.452_463del (p.Ile151_Ala155delinsThr) rs2141632937
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.546dup (p.Phe183fs) rs2141632418
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.703G>T (p.Glu235Ter) rs2044763223
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs) rs2142390867
NM_001134407.3(GRIN2A):c.942del (p.Glu315fs)
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala) rs863224885
NM_001161352.2(KCNMA1):c.1749+2T>C
NM_001161352.2(KCNMA1):c.1807A>G (p.Thr603Ala) rs2094531972
NM_001161352.2(KCNMA1):c.2092+1G>A rs2090875352
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) rs1565091862
NM_001161352.2(KCNMA1):c.3016+2T>C
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.574C>A (p.Leu192Ile) rs2154251764
NM_001242896.3(DEPDC5):c.1081+2T>G rs1601970824
NM_001242896.3(DEPDC5):c.1143+1G>A rs2148649751
NM_001242896.3(DEPDC5):c.1225del (p.Thr409fs)
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs) rs1568963062
NM_001242896.3(DEPDC5):c.1287+1G>A
NM_001242896.3(DEPDC5):c.1324+1G>A rs2088011240
NM_001242896.3(DEPDC5):c.1324+1G>T rs2088011240
NM_001242896.3(DEPDC5):c.1325-1G>A rs1555882867
NM_001242896.3(DEPDC5):c.1325-1G>C rs1555882867
NM_001242896.3(DEPDC5):c.1325-2A>G rs2148707066
NM_001242896.3(DEPDC5):c.1325-2_1360del
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs) rs2088167973
NM_001242896.3(DEPDC5):c.1445+1G>A
NM_001242896.3(DEPDC5):c.1446-1G>T rs1555885023
NM_001242896.3(DEPDC5):c.147-1G>C
NM_001242896.3(DEPDC5):c.1673T>C (p.Leu558Pro) rs2089433234
NM_001242896.3(DEPDC5):c.1696del (p.Gln566fs) rs2148801285
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs) rs2148801432
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
NM_001242896.3(DEPDC5):c.194-1G>C rs2148102743
NM_001242896.3(DEPDC5):c.1981_2104+678del
NM_001242896.3(DEPDC5):c.2170+1G>A rs2148924638
NM_001242896.3(DEPDC5):c.2233_2355-686del rs2148952714
NM_001242896.3(DEPDC5):c.2354+2T>A rs2148953712
NM_001242896.3(DEPDC5):c.2515+2T>G
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val) rs1602349641
NM_001242896.3(DEPDC5):c.2634-2A>G rs2149008450
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs) rs1569083500
NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)
NM_001242896.3(DEPDC5):c.280-4_282del
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
NM_001242896.3(DEPDC5):c.3021+1G>A rs2091657024
NM_001242896.3(DEPDC5):c.3264G>A (p.Lys1088=)
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del) rs2092817019
NM_001242896.3(DEPDC5):c.3485+1G>A
NM_001242896.3(DEPDC5):c.3485+1G>T rs2149231722
NM_001242896.3(DEPDC5):c.3486-1G>C
NM_001242896.3(DEPDC5):c.3486-1G>T
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
NM_001242896.3(DEPDC5):c.3563+1G>A rs1261611694
NM_001242896.3(DEPDC5):c.3563+1G>C rs1261611694
NM_001242896.3(DEPDC5):c.363+1G>A rs2082845191
NM_001242896.3(DEPDC5):c.363+1G>C
NM_001242896.3(DEPDC5):c.364-1G>A rs2083056830
NM_001242896.3(DEPDC5):c.3696+1G>A
NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter) rs1309166815
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
NM_001242896.3(DEPDC5):c.413+1G>A
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs) rs1339126434
NM_001242896.3(DEPDC5):c.4203+1G>C rs945102665
NM_001242896.3(DEPDC5):c.4204-1G>A
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs) rs1601755632
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs) rs2148328679
NM_001242896.3(DEPDC5):c.4436+1G>A rs2149419886
NM_001242896.3(DEPDC5):c.483+1G>A rs2084070588
NM_001242896.3(DEPDC5):c.483+2T>C
NM_001242896.3(DEPDC5):c.484-2A>T
NM_001242896.3(DEPDC5):c.58+1G>A
NM_001242896.3(DEPDC5):c.58+2T>C
NM_001242896.3(DEPDC5):c.59-2A>G
NM_001242896.3(DEPDC5):c.625-2A>G rs1400868304
NM_001242896.3(DEPDC5):c.694+1G>A rs1601875057
NM_001242896.3(DEPDC5):c.767+1G>A rs2148514247
NM_001242896.3(DEPDC5):c.767+2T>C
NM_001242896.3(DEPDC5):c.768-2A>G rs2086393945
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
NM_001242896.3(DEPDC5):c.871+1G>T rs1556607762
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
NM_001242896.3(DEPDC5):c.947-1G>A rs2148633437
NM_001283009.2(RTEL1):c.691G>T (p.Asp231Tyr)
NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter) rs1588057922
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys) rs760285654
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln) rs771373457
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457
NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]
NM_004287.5(GOSR2):c.204-1G>T rs1187190721
NM_004287.5(GOSR2):c.337-2A>G rs1568177307
NM_004287.5(GOSR2):c.95-1G>C rs1186314496
NM_005045.4(RELN):c.2002+1G>A
NM_005045.4(RELN):c.2303+1G>A rs2117350995
NM_005045.4(RELN):c.2303+2T>G
NM_005045.4(RELN):c.2465+2T>G
NM_005045.4(RELN):c.3463dup (p.Leu1155fs) rs1831540987
NM_005045.4(RELN):c.473+1G>A
NM_005045.4(RELN):c.4936+1G>T
NM_005045.4(RELN):c.5615-2A>G rs2117168257
NM_005045.4(RELN):c.6068_6072+20del
NM_005045.4(RELN):c.6314del (p.Phe2105fs) rs1830269249
NM_005045.4(RELN):c.7180+1G>T rs2117126444
NM_005045.4(RELN):c.805+1G>T
NM_005045.4(RELN):c.8843+2T>C
NM_005045.4(RELN):c.9444-1G>A rs1828624396
NM_005076.5(CNTN2):c.1240+1G>A rs113709347
NM_005076.5(CNTN2):c.1695+2T>C rs763392794
NM_005076.5(CNTN2):c.1696-2A>G
NM_005076.5(CNTN2):c.2126-1G>C rs2151198133
NM_005076.5(CNTN2):c.2197-2A>G
NM_005076.5(CNTN2):c.2544+1G>T
NM_005076.5(CNTN2):c.2731+1G>A rs1202358073
NM_005097.4(LGI1):c.1095del (p.Asn365fs) rs2134026453
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu) rs797044999
NM_005097.4(LGI1):c.1421G>A (p.Arg474Gln) rs1064794249
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005097.4(LGI1):c.187del (p.Arg63fs)
NM_005097.4(LGI1):c.215+2T>A rs2059586444
NM_005097.4(LGI1):c.287+1G>A rs2059593242
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter) rs2059583625
NM_005097.4(LGI1):c.504-1G>T rs1564851314
NM_005097.4(LGI1):c.504-9_505del rs2134020777
NM_005097.4(LGI1):c.682_683del (p.Lys228fs)
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)
NM_005506.4(SCARB2):c.108dup (p.Ile37fs) rs1733108376
NM_005506.4(SCARB2):c.1113+1G>T rs2109937707
NM_005506.4(SCARB2):c.1114-2A>G
NM_005506.4(SCARB2):c.1240-2A>G
NM_005506.4(SCARB2):c.235del (p.Glu79fs) rs1732698125
NM_005506.4(SCARB2):c.424-1G>A rs1732338984
NM_005506.4(SCARB2):c.995-16_1062delinsG
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu) rs1362231306
NM_005670.4(EPM2A):c.745G>A (p.Val249Met) rs1387516050
NM_005670.4(EPM2A):c.758A>T (p.His253Leu) rs749937487
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) rs1131691331
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val) rs2128649886
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
NM_006545.5(NPRL2):c.445_448+3del rs1575562076
NM_006545.5(NPRL2):c.491dup (p.Asp165fs) rs1703652698
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter) rs2109365845
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs) rs2109364484
NM_006545.5(NPRL2):c.907del (p.Gln303fs)
NM_006545.5(NPRL2):c.932+1G>A rs1703621639
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile) rs1057518066
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser) rs397515403
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr) rs1831666357
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys) rs587777264
NM_022765.4(MICAL1):c.2348C>G (p.Ser783Ter)
NM_022765.4(MICAL1):c.763G>T (p.Val255Leu)
NM_032108.4(SEMA6B):c.1534_1537del (p.Ala512fs) rs2145347825
NM_032108.4(SEMA6B):c.1739-2A>G
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs) rs1443687532
NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)
NM_144633.3(KCNH8):c.298T>C (p.Tyr100His)
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_153033.5(KCTD7):c.294C>T (p.Asp98=)
NM_153033.5(KCTD7):c.314+1G>A rs1554397834
NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro) rs765235486
NM_153033.5(KCTD7):c.493+2_493+6del rs2116774137
NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)
NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr) rs2116775490
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg) rs200415747
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs) rs1783731105
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg) rs967125703
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu) rs200559475
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) rs1403101337
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val) rs1194084403
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.950C>A (p.Thr317Asn) rs1765173859
Single allele

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