List of variants reported as likely benign for childhood-onset epilepsy syndrome by Fulgent Genetics, Fulgent Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 93

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.1143-6C>T	rs73490287	0.02047
NM_005045.4(RELN):c.6672-16C>T	rs79610318	0.01836
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=)	rs34778200	0.01220
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr)	rs115640958	0.01215
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)	rs189089167	0.01110
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)	rs78008536	0.01065
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile)	rs79499902	0.01040
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=)	rs35513423	0.01020
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=)	rs35648306	0.00805
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)	rs149055334	0.00789
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser)	rs116716038	0.00747
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=)	rs35972647	0.00702
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)	rs3827522	0.00701
NM_001161352.2(KCNMA1):c.1749+11G>A	rs116546993	0.00682
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)	rs149416418	0.00671
NM_005045.4(RELN):c.9524A>C (p.His3175Pro)	rs74513461	0.00648
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)	rs140990288	0.00518
NM_005045.4(RELN):c.6084C>T (p.Gly2028=)	rs114019779	0.00507
NM_018941.4(CLN8):c.-123-4T>C	rs114189810	0.00505
NM_000744.7(CHRNA4):c.76+18G>T	rs199908363	0.00504
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)	rs61731465	0.00502
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)	rs200642629	0.00491
NM_001271.4(CHD2):c.2577+7T>C	rs146944583	0.00371
NM_018941.4(CLN8):c.777T>C (p.Asn259=)	rs34814682	0.00334
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)	rs55857552	0.00330
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg)	rs61731464	0.00322
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp)	rs202216463	0.00304
NM_020361.5(CPA6):c.975A>G (p.Ala325=)	rs138313759	0.00299
NM_006922.4(SCN3A):c.171T>C (p.Ala57=)	rs111389453	0.00278
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)	rs45569837	0.00262
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)	rs80075498	0.00257
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)	rs117844037	0.00256
NM_005506.4(SCARB2):c.171T>C (p.Pro57=)	rs199895330	0.00232
NM_005045.4(RELN):c.8811G>A (p.Ala2937=)	rs144728023	0.00226
NM_022765.4(MICAL1):c.1599G>A (p.Leu533=)	rs142979809	0.00219
NM_005045.4(RELN):c.1442-8T>C	rs181761096	0.00212
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)	rs200653339	0.00200
NM_005506.4(SCARB2):c.704+16T>C	rs199686576	0.00148
NM_005045.4(RELN):c.3123C>T (p.Gly1041=)	rs41276148	0.00123
NM_005506.4(SCARB2):c.246G>C (p.Arg82=)	rs35035064	0.00116
NM_005045.4(RELN):c.4748-11T>C	rs201494847	0.00098
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)	rs79137415	0.00084
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr)	rs79377093	0.00084
NM_003042.4(SLC6A1):c.953+19G>A	rs113968319	0.00077
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn)	rs148509350	0.00071
NM_020822.3(KCNT1):c.3503-18C>T	rs373901872	0.00068
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser)	rs192913494	0.00066
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)	rs144659358	0.00055
NM_005045.4(RELN):c.5530-18A>G	rs188302870	0.00046
NM_005506.4(SCARB2):c.276-7C>G	rs200507087	0.00042
NM_005506.4(SCARB2):c.567T>C (p.His189=)	rs141208366	0.00037
NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=)	rs144587694	0.00035
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=)	rs149049198	0.00034
NM_001161352.2(KCNMA1):c.1441-11C>T	rs79390996	0.00028
NM_001242896.3(DEPDC5):c.3643G>A (p.Val1215Met)	rs201603222	0.00019
NM_005045.4(RELN):c.8844-20T>C	rs142002220	0.00016
NM_005506.4(SCARB2):c.228C>T (p.Leu76=)	rs35069772	0.00016
NM_005506.4(SCARB2):c.424-5C>T	rs192876326	0.00014
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln)	rs561255614	0.00014
NM_001242896.3(DEPDC5):c.3264+13G>A	rs377268492	0.00010
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu)	rs114686696	0.00010
NM_005506.4(SCARB2):c.1187+18C>T	rs202159028	0.00009
NM_005506.4(SCARB2):c.275+20T>C	rs377180838	0.00009
NM_000748.3(CHRNB2):c.1488C>T (p.His496=)	rs200582284	0.00008
NM_018941.4(CLN8):c.300G>A (p.Gln100=)	rs148988002	0.00008
NM_005506.4(SCARB2):c.117+19T>C	rs774812479	0.00007
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=)	rs200259564	0.00005
NM_004287.5(GOSR2):c.111C>T (p.Ile37=)	rs755662176	0.00004
NM_005506.4(SCARB2):c.1089T>C (p.His363=)	rs753197792	0.00004
NM_005506.4(SCARB2):c.522C>T (p.Asp174=)	rs375051752	0.00004
NM_005506.4(SCARB2):c.93G>A (p.Lys31=)	rs558215488	0.00004
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)	rs564647544	0.00003
NM_018941.4(CLN8):c.288G>A (p.Ala96=)	rs533351136	0.00003
NM_005506.4(SCARB2):c.824+20G>A	rs1257697437	0.00002
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=)	rs767434859	0.00002
NM_000744.7(CHRNA4):c.987C>T (p.Asn329=)	rs572366184	0.00001
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=)	rs201514209	0.00001
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=)	rs199851404	0.00001
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)	rs763288862	0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=)	rs1043525791	0.00001
NM_005045.4(RELN):c.3147-15C>T	rs773147896	0.00001
NM_005045.4(RELN):c.7182G>A (p.Ala2394=)	rs879182818	0.00001
NM_005506.4(SCARB2):c.276-17C>T	rs1732375088	0.00001
NM_005506.4(SCARB2):c.33G>T (p.Thr11=)	rs774721226	0.00001
NM_006922.4(SCN3A):c.2392-9A>G	rs199781617	0.00001
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)	rs202079239
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)	rs78631453
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)	rs150268140
NM_005045.4(RELN):c.4257T>C (p.His1419=)	rs138924805
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser)	rs73714410
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)	rs374338349
NM_022765.4(MICAL1):c.2044del (p.Pro681_Leu682insTer)	rs553320791
NM_032108.4(SEMA6B):c.1074C>A (p.Pro358=)	rs10422855

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