ClinVar Miner

List of variants in gene EPM2A reported as benign for Progressive myoclonic epilepsy

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_005670.4(EPM2A):c.718+19C>G rs370750611 0.00040
NM_005670.4(EPM2A):c.719-8del
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861

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