List of variants in gene EPM2A reported as pathogenic for adolescent-onset epilepsy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_005670.4(EPM2A):c.302-1G>C	rs369463720	0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)	rs137852915	0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)	rs137852916	0.00001
NC_000006.11:g.(?_145948552)_(145956642_?)del
NC_000006.11:g.(?_146056334)_(146056634_?)del
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NM_005670.4(EPM2A):c.302-2A>G	rs780648601
NM_005670.4(EPM2A):c.314A>G (p.His105Arg)	rs1554263366
NM_005670.4(EPM2A):c.322del (p.Arg108fs)	rs2128614455
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)	rs587776553
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs)	rs1780901751
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs)	rs1554263320
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter)	rs781291421
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu)	rs1387516050
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs)	rs1775923311
NM_005670.4(EPM2A):c.794A>G (p.His265Arg)	rs201053542
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)	rs137852917
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)	rs137852917
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
NM_005670.4(EPM2A):c.934dup (p.Arg312fs)	rs2128555980
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)	rs587776554

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