List of variants reported as likely pathogenic for Progressive myoclonic epilepsy

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)	rs137852916	0.00001
NM_004287.5(GOSR2):c.204-1G>T	rs1187190721
NM_004287.5(GOSR2):c.337-2A>G	rs1568177307
NM_004287.5(GOSR2):c.95-1G>C	rs1186314496
NM_005506.4(SCARB2):c.1113+1G>T	rs2109937707
NM_005506.4(SCARB2):c.1240-2A>G
NM_005506.4(SCARB2):c.424-1G>A	rs1732338984
NM_005506.4(SCARB2):c.995-16_1062delinsG
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu)	rs1362231306
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)	rs749937487
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val)	rs2128649886

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