ClinVar Miner

List of variants in gene EPM2A, EPM2A-DT, LOC129997381 studied for Lafora disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256 0.00041
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) rs550455609 0.00032
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854 0.00029
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987 0.00023
NM_005670.4(EPM2A):c.209A>T (p.Glu70Val) rs796052426 0.00002
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
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.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter) rs796052424
NM_005670.4(EPM2A):c.177del (p.Trp60fs)
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.263T>A (p.Phe88Tyr)
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
NM_005670.4(EPM2A):c.301+1G>C
NM_005670.4(EPM2A):c.82_154del (p.Glu28fs)
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955

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