ClinVar Miner

List of variants reported as pathogenic for epilepsy by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu) rs375002796 0.00003
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) rs587777248 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys) rs768570935 0.00002
NM_000817.3(GAD1):c.865C>T (p.Gln289Ter) rs1181224255
NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg) rs886041337
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter) rs2131501460
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001165963.4(SCN1A):c.1142A>G (p.Gln381Arg)
NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr)
NM_001165963.4(SCN1A):c.1353_1354dup (p.Lys452fs)
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs) rs1553522321
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001242896.3(DEPDC5):c.1212_1213delinsGGTT (p.Asn404fs)
NM_001242896.3(DEPDC5):c.1707del (p.Ser570fs)
NM_001242896.3(DEPDC5):c.3612C>A (p.Cys1204Ter)
NM_001242896.3(DEPDC5):c.4402C>T (p.Arg1468Ter) rs1016477183
NM_001242896.3(DEPDC5):c.938C>G (p.Ser313Ter)
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter) rs796052424
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter) rs878853280
NM_014687.4(RUBCN):c.2624del (p.Ala875fs) rs587777235
NM_014795.4(ZEB2):c.1910C>A (p.Ser637Ter)
NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter) rs1573716158
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter) rs1562848142
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_153033.5(KCTD7):c.696del (p.Phe232fs) rs2116775509
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)

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