ClinVar Miner

List of variants studied for epilepsy by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) rs587777248 0.00003
NC_000016.9:g.78159969_78320350del
NM_014334.4(FRRS1L):c.-3_-2delinsGC rs1554736515
NM_016373.4(WWOX):c.409+1G>T rs1060502727
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.929G>C (p.Arg310Pro) rs765339835

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