ClinVar Miner

List of variants studied for epilepsy by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001367561.1(DOCK7):c.3797G>A (p.Arg1266Gln) rs138914992 0.00019
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541 0.00012
NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu) rs767949941 0.00004
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu) rs1054346747 0.00004
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys) rs762082236 0.00002
NM_001367561.1(DOCK7):c.38+6T>C rs1029588198 0.00002
NM_001365999.1(SZT2):c.2599G>A (p.Val867Ile) rs768015377 0.00001
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val) rs200611702
NM_018129.4(PNPO):c.448_451del (p.Pro150fs) rs796052872
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862

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