ClinVar Miner

List of variants reported as uncertain significance for adolescent-onset epilepsy syndrome by Baylor Genetics

Included ClinVar conditions (69):
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Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_032737.4(LMNB2):c.265-19C>T rs199577453 0.00046
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786 0.00019
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063 0.00012
NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp) rs145978406 0.00010
NM_032737.4(LMNB2):c.281C>T (p.Ala94Val) rs778299381 0.00008
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) rs200007766 0.00007
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln) rs983217484 0.00006
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=) rs1057522803 0.00006
NM_006922.4(SCN3A):c.3682A>G (p.Ile1228Val) rs769710212 0.00003
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu) rs183899632 0.00003
NM_020822.3(KCNT1):c.880C>T (p.Arg294Trp) rs369101729 0.00003
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) rs780184576 0.00002
NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro) rs774477005 0.00002
NM_001242896.3(DEPDC5):c.3002G>A (p.Arg1001His) rs1473617562 0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) rs139732381 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys) rs1234808455 0.00001
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658 0.00001
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys) rs752289948 0.00001
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro) rs546525405 0.00001
NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His) rs1185705971 0.00001
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp) rs1249219901 0.00001
NM_032737.4(LMNB2):c.891C>G (p.Asp297Glu) rs768380280 0.00001
NM_153033.5(KCTD7):c.763C>G (p.Gln255Glu) rs766720725 0.00001
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn) rs1397681630
NM_000682.7(ADRA2B):c.649G>A (p.Glu217Lys) rs371934652
NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter) rs786205528
NM_000742.4(CHRNA2):c.121del (p.Leu41fs) rs796052310
NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter) rs374449470
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu) rs1555837732
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn) rs2068560302
NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu) rs201018244
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys) rs1064795157
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser) rs979733757
NM_001112741.2(KCNC1):c.215G>T (p.Arg72Leu) rs1848764021
NM_001112741.2(KCNC1):c.548C>G (p.Pro183Arg) rs1848768884
NM_001134407.3(GRIN2A):c.1087G>T (p.Val363Leu) rs2043684301
NM_001134407.3(GRIN2A):c.1313A>G (p.Lys438Arg) rs2042848665
NM_001134407.3(GRIN2A):c.1516G>A (p.Val506Ile) rs368188808
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val) rs1567329011
NM_001134407.3(GRIN2A):c.2748C>G (p.Asp916Glu)
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_001134407.3(GRIN2A):c.3230G>C (p.Ser1077Thr) rs1427368529
NM_001134407.3(GRIN2A):c.3379G>C (p.Gly1127Arg) rs1360004561
NM_001134407.3(GRIN2A):c.3896C>G (p.Pro1299Arg) rs1156972587
NM_001134407.3(GRIN2A):c.3979A>G (p.Ser1327Gly)
NM_001134407.3(GRIN2A):c.4234T>A (p.Cys1412Ser) rs1262702313
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del) rs775540481
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser) rs1564596167
NM_001242896.3(DEPDC5):c.1828C>A (p.Leu610Ile) rs2089444709
NM_001242896.3(DEPDC5):c.2633+9T>G rs2091505022
NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)
NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp) rs528863179
NM_001242896.3(DEPDC5):c.3612C>G (p.Cys1204Trp) rs2092932762
NM_001242896.3(DEPDC5):c.530T>G (p.Met177Arg) rs2084718245
NM_001242896.3(DEPDC5):c.836T>A (p.Ile279Asn) rs2086399384
NM_001242896.3(DEPDC5):c.872-3C>T rs2086521058
NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser) rs2086522074
NM_005045.4(RELN):c.445C>T (p.Pro149Ser) rs374263472
NM_005045.4(RELN):c.8578T>G (p.Cys2860Gly) rs1829002405
NM_005045.4(RELN):c.9634G>A (p.Gly3212Arg) rs1828588593
NM_005076.5(CNTN2):c.2431+5G>A rs1380526589
NM_005076.5(CNTN2):c.2983C>T (p.Pro995Ser) rs1654685363
NM_006545.5(NPRL2):c.260T>C (p.Phe87Ser)
NM_006545.5(NPRL2):c.416T>G (p.Leu139Arg)
NM_006922.4(SCN3A):c.1580A>C (p.Glu527Ala) rs1688370923
NM_006922.4(SCN3A):c.3133A>G (p.Ile1045Val) rs894700711
NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly) rs1060500006
NM_006922.4(SCN3A):c.3499G>A (p.Ala1167Thr) rs1259561654
NM_006922.4(SCN3A):c.3629C>T (p.Thr1210Ile) rs2105710443
NM_020361.5(CPA6):c.1096T>C (p.Tyr366His) rs1809934047
NM_020822.3(KCNT1):c.1769+6G>A rs927454585
NM_020822.3(KCNT1):c.3046G>T (p.Asp1016Tyr) rs779908455
NM_020822.3(KCNT1):c.980C>T (p.Ser327Leu) rs1340962392
NM_021267.5(CERS1):c.527C>G (p.Ser176Trp) rs555889038
NM_022765.4(MICAL1):c.1021G>A (p.Ala341Thr) rs1775493179
NM_022765.4(MICAL1):c.2462T>C (p.Leu821Pro) rs755137933
NM_032737.4(LMNB2):c.572A>G (p.His191Arg) rs1971851658
NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys) rs1284958285
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)

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