ClinVar Miner

List of variants in gene EPM2A, FBXO30-DT studied for Lafora disease

Included ClinVar conditions (2):
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Gene type:
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Total variants: 7
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NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955

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