ClinVar Miner

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

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 342
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HGVS dbSNP
NC_000001.11:g.(?_40089400)_(40097248_?)del
NC_000004.12:g.(?_127920610)_(127957612_?)del
NC_000004.12:g.(?_127930663)_(127933113_?)del
NC_000004.12:g.(?_127930663)_(127965153_?)del
NC_000004.12:g.(?_127932965)_(127933113_?)del
NC_000004.12:g.(?_127965052)_(127965153_?)del
NC_000004.12:g.(?_127965062)_(127965143_?)del
NC_000005.9:g.(?_160721068)_(161528343_?)del
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145625675)_(145735518_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NC_000007.14:g.(?_66629045)_(66640414_?)del
NC_000007.14:g.(?_66638233)_(66639252_?)del
NC_000008.11:g.(?_1771035)_(1780587_?)del
NC_000008.11:g.(?_1771045)_(1780577_?)del
NC_000010.11:g.(?_93161309)_(93797823_?)del
NC_000013.11:g.(?_76991932)_(77000989_?)del
NC_000013.11:g.(?_76995053)_(76996137_?)del
NC_000015.10:g.(?_68208120)_(68229604_?)del
NC_000015.10:g.(?_68229482)_(68229604_?)del
NC_000015.10:g.(?_68229492)_(68229594_?)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000016.10:g.(?_130502)_(130611_?)del
NC_000016.10:g.(?_130502)_(138287_?)del
NC_000016.10:g.(?_138130)_(138287_?)del
NC_000016.10:g.(?_28475343)_(28484138_?)del
NC_000016.10:g.(?_28475343)_(28486650_?)del
NC_000016.10:g.(?_28477496)_(28491779_?)del
NC_000016.10:g.(?_28483996)_(28484128_?)del
NC_000016.10:g.(?_28485965)_(28486930_?)del
NC_000016.10:g.(?_28486327)_(28486670_?)del
NC_000016.10:g.(?_28486347)_(28486650_?)del
NC_000016.10:g.(?_28487436)_(28491779_?)del
NC_000016.10:g.(?_28487456)_(28595930_?)del
NC_000016.10:g.(?_89693)_(100529_?)del
NC_000016.10:g.(?_9798257)_(9849981_?)del
NC_000016.10:g.(?_98125)_(100529_?)del
NC_000016.10:g.(?_9829403)_(9829672_?)del
NC_000016.10:g.(?_9849736)_(9849981_?)del
NC_000016.10:g.(?_9890966)_(10180431_?)del
NC_000016.10:g.(?_9890966)_(9891120_?)del
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_136684)_(162794_?)del
NC_000016.9:g.(?_136684)_(188286_?)del
NC_000016.9:g.(?_148123)_(188286_?)del
NC_000016.9:g.(?_160503)_(162794_?)del
NC_000017.11:g.(?_46923173)_(46940633_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)del
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.11:g.(?_31754902)_(31754999_?)del
NC_000022.11:g.(?_31754902)_(31784895_?)del
NC_000022.11:g.(?_31754902)_(31815232_?)del
NC_000022.11:g.(?_31754902)_(31815449_?)del
NC_000022.11:g.(?_31754902)_(31906517_?)del
NC_000022.11:g.(?_31758526)_(31758653_?)del
NC_000022.11:g.(?_31760636)_(31760722_?)del
NC_000022.11:g.(?_31764955)_(31766688_?)del
NC_000022.11:g.(?_31792013)_(31792122_?)del
NC_000022.11:g.(?_31804142)_(31810661_?)del
NC_000022.11:g.(?_31809591)_(31815232_?)del
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.461-3C>G rs181995380
NM_000086.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000086.2(CLN3):c.954_962+18del rs386833741
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.200_203dup (p.Val69fs) rs1601855887
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000100.4(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.234+1G>A rs796052923
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs) rs1302326945
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.4(PPT1):c.102del (p.Leu35fs)
NM_000310.4(PPT1):c.124+1215_235-103del
NM_000310.4(PPT1):c.289_290del (p.Gln97fs)
NM_000310.4(PPT1):c.6del (p.Ser3fs) rs1570476221
NM_000310.4(PPT1):c.727-1G>A
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys) rs121908197
NM_000391.4(TPP1):c.1075+2T>C
NM_000391.4(TPP1):c.1087delinsTT (p.Ala363fs)
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs) rs759664259
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter) rs1589948943
NM_000391.4(TPP1):c.376_380+6del
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.4(TPP1):c.887-10A>G rs755445790
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.941_942del (p.Glu314fs)
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs)
NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter)
NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs)
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter)
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs) rs1567129567
NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs)
NM_001077350.3(NPRL3):c.1372del (p.Leu458fs)
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter) rs1021001959
NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter)
NM_001077350.3(NPRL3):c.341del (p.Pro114fs) rs1596526976
NM_001077350.3(NPRL3):c.349del (p.Glu117fs)
NM_001077350.3(NPRL3):c.377del (p.Val126fs) rs1596526915
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.44del (p.Ser15fs)
NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter)
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter) rs1596522300
NM_001077350.3(NPRL3):c.644del (p.Gly215fs)
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs) rs1555441032
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His) rs1596505517
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter)
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter) rs1567152003
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter) rs1596500172
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.1(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1123-1G>A
NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs)
NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs)
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter)
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) rs397518470
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) rs1596483044
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) rs1596587476
NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter)
NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter)
NM_001142604.2(PPT1):c.125-2560_125-2559del rs1570470281
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter)
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs)
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001167961.2(KCTD7):c.331del (p.Leu111fs)
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1121_1122dup (p.His375fs)
NM_001242896.3(DEPDC5):c.2826G>A (p.Trp942Ter)
NM_001242896.3(DEPDC5):c.2857_2858del (p.Val953fs)
NM_001242896.3(DEPDC5):c.3095del (p.Pro1032fs)
NM_001242896.3(DEPDC5):c.319C>T (p.Gln107Ter)
NM_001242896.3(DEPDC5):c.3436C>T (p.Gln1146Ter)
NM_001242896.3(DEPDC5):c.3655dup (p.Glu1219fs)
NM_001242896.3(DEPDC5):c.4291_4294del (p.Tyr1431fs)
NM_001242896.3(DEPDC5):c.4446dup (p.Val1483fs) rs1603014297
NM_001242896.3(DEPDC5):c.4530del (p.Leu1511fs)
NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter)
NM_001242896.3(DEPDC5):c.832_833del (p.Phe278fs)
NM_001242896.3(DEPDC5):c.862G>T (p.Glu288Ter)
NM_001242897.2(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242897.2(DEPDC5):c.1224C>A (p.Tyr408Ter) rs1602010382
NM_001242897.2(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242897.2(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer) rs1555882921
NM_001242897.2(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242897.2(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242897.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242897.2(DEPDC5):c.1845del (p.Arg615fs) rs1060501487
NM_001242897.2(DEPDC5):c.2091T>A (p.Tyr697Ter) rs374158137
NM_001242897.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242897.2(DEPDC5):c.2386C>T (p.Arg796Ter) rs578185749
NM_001242897.2(DEPDC5):c.2660_2685del (p.His887fs) rs1555900914
NM_001242897.2(DEPDC5):c.280-1G>A rs1556526609
NM_001242897.2(DEPDC5):c.3025C>T (p.Arg1009Ter) rs587777458
NM_001242897.2(DEPDC5):c.3247del (p.Ala1083fs) rs1569166925
NM_001242897.2(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224
NM_001242897.2(DEPDC5):c.3502C>T (p.Arg1168Ter) rs886039268
NM_001242897.2(DEPDC5):c.3568C>T (p.Gln1190Ter) rs1569186093
NM_001242897.2(DEPDC5):c.3694C>T (p.Arg1232Ter) rs886039269
NM_001242897.2(DEPDC5):c.3907C>T (p.Gln1303Ter) rs1602903591
NM_001242897.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242897.2(DEPDC5):c.4201C>T (p.Gln1401Ter) rs1603014708
NM_001242897.2(DEPDC5):c.4201_4202dup (p.Gln1401fs) rs1569254004
NM_001242897.2(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242897.2(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242897.2(DEPDC5):c.562+1G>A rs1057524233
NM_001242897.2(DEPDC5):c.784_785GA[2] (p.Arg263fs) rs1569523728
NM_001242897.2(DEPDC5):c.788_792GAAGA[1] (p.Glu265fs) rs1601925213
NM_001242897.2(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242897.2(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)
NM_001371596.2(MFSD8):c.27_33delinsCC (p.Glu9fs)
NM_001371596.2(MFSD8):c.754+1G>A
NM_001371596.2(MFSD8):c.831dup (p.Val278fs) rs775699005
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.863+1G>T
NM_002087.3(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.3(GRN):c.1414-2A>G rs1555611412
NM_002087.3(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.3(GRN):c.80dup (p.Val28fs) rs1392550887
NM_002087.3(GRN):c.898C>T (p.Gln300Ter) rs1555611253
NM_002087.3(GRN):c.991C>T (p.Gln331Ter) rs1567887496
NM_002087.4(GRN):c.138+1G>A rs63749844
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294
NM_002087.4(GRN):c.383_386del (p.Asp128fs)
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.836-1G>C rs63751296
NM_004287.3(GOSR2):c.430G>T rs387906881
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) rs1380954046
NM_004287.5(GOSR2):c.262del (p.Gln88fs)
NM_005045.4(RELN):c.2086dup (p.Ser696fs)
NM_005045.4(RELN):c.3215del (p.Asp1072fs)
NM_005045.4(RELN):c.3485dup (p.Ile1163fs)
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs)
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) rs1060502053
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) rs1554907767
NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) rs1554907787
NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) rs1554907835
NM_005097.4(LGI1):c.1465del (p.Tyr489fs) rs1589776148
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) rs1564845068
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) rs1060502054
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs)
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.4(SCARB2):c.432_433AG[3] (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.956del (p.Leu319fs)
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer)
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs)
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter)
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)
NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs) rs1555273604
NM_006493.4(CLN5):c.112del (p.Val38fs)
NM_006493.4(CLN5):c.187del (p.Arg63fs) rs1555273881
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)
NM_006493.4(CLN5):c.83G>A (p.Trp28Ter)
NM_006493.4(CLN5):c.844_845dup (p.Thr283fs)
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.965_968del (p.Tyr322fs)
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter)
NM_017882.3(CLN6):c.66del (p.Ser23fs)
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) rs137852777
NM_018941.3(CLN8):c.295C>T (p.Gln99Ter) rs750162094
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.4(CLN8):c.311G>A (p.Trp104Ter)
NM_018941.4(CLN8):c.429_432del (p.Phe143fs)
NM_018941.4(CLN8):c.593_596dup (p.Met200fs)
NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) rs1588385233
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.3(KCNT1):c.2943+1G>C
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) rs587776892
NM_152778.3(MFSD8):c.1036del (p.Val346fs) rs1439582451
NM_152778.3(MFSD8):c.1086del (p.Ile364fs) rs1460276679
NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970
NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.233G>A (p.Trp78Ter) rs1578912362
NM_152778.3(MFSD8):c.64G>T (p.Glu22Ter) rs1560776422
NM_152778.3(MFSD8):c.754+2T>A rs587778809
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_152778.3(MFSD8):c.894T>G (p.Tyr298Ter) rs118203977
NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) rs387907246
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter)
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) rs1157872508
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108
NM_198586.3(NHLRC1):c.612del (p.Phe204fs)
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter)

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