ClinVar Miner

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

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649
NM_005670.4(EPM2A):c.476+7A>G rs756197281
NM_005670.4(EPM2A):c.564T>G (p.Ala188=) rs1342189516
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) rs571938170
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
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.726A>G (p.Val242=) rs1485448690
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.918C>T (p.Asp306=) rs375436219
NM_005670.4(EPM2A):c.936G>A (p.Arg312=) rs773315475
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632

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