List of variants in gene combination EPM2A, EPM2A-DT, LOC129997381 reported as pathogenic for Progressive myoclonic epilepsy

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.301+1G>T	rs1361221383	0.00001
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)	rs104893955	0.00001
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)	rs1204045237
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer)	rs1170939620
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)	rs187930476
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)	rs1332729329
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)	rs1776791266
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter)	rs750988816
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)	rs1454552122
NM_005670.4(EPM2A):c.301+2T>C	rs2534171587
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter)	rs1776817138
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del)	rs2128649765
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)	rs2534174818

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