ClinVar Miner

List of variants reported as likely pathogenic for epilepsy by NeuroMeGen, Hospital Clinico Santiago de Compostela

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NC_000001.10:g.(?_206516175)_(206567055_?)dup
NC_000001.10:g.(?_206579711)_(206634815_?)dup
NC_000002.11:g.(?_166152283)_(166246384_?)dup
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NC_000002.11:g.(?_167055131)_(167168316_?)dup
NC_000016.10:g.(?_29824300)_(29826034_?)del
NC_000016.10:g.(?_6316970)_(6317082_?)del
NC_000016.10:g.(?_6654578)_(6654675_?)del
NC_000022.11:g.(?_32200123)_(32200234_?)del
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp) rs1135401786
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser) rs1553463513
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter) rs1557134999
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs) rs1553544470
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) rs1556389083
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) rs1554627439
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile) rs1553181323
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs) rs1554304254
NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys) rs1555868402
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) rs1553283916
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) rs1556054888
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln) rs118192217
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_173728.4(ARHGEF15):c.709_723del (p.Val237_Ala241del) rs1555546796
NM_198904.4(GABRG2):c.704G>A (p.Trp235Ter) rs1554098226

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