List of variants in gene combination EPM2A, EPM2A-DT, LOC129997381 reported as uncertain significance for Lafora disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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.136G>A (p.Ala46Thr)	rs374338349
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)

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