ClinVar Miner

List of variants in gene EPM2A reported as 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: 5
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HGVS dbSNP
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590
NM_005670.4(EPM2A):c.719-4G>A rs145030227
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861

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