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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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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.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.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)

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