ClinVar Miner

List of variants in gene EPM2A reported as likely benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) rs61758156
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) rs142027344
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632

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