ClinVar Miner

List of variants in gene MFSD8 reported as likely pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.440-2A>T rs751696703
NM_152778.3(MFSD8):c.525T>A (p.Cys175Ter)
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465

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