List of variants reported as pathogenic for epilepsy by Institute for Human Genetics, University Hospital Essen

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005885.4(MARCHF6):c.19+2427TTTAT[641]
NM_006950.3(SYN1):c.1001del (p.Asn334fs)	rs1603051674
NM_006950.3(SYN1):c.1258dup (p.Arg420fs)
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter)	rs757027813
NM_006950.3(SYN1):c.1321dup (p.Ala441fs)
NM_006950.3(SYN1):c.1439dup (p.Leu481fs)	rs1556857481
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter)	rs2057771219
NM_006950.3(SYN1):c.1729del (p.Ala577fs)
NM_006950.3(SYN1):c.1794_1906del (p.Thr601fs)
NM_006950.3(SYN1):c.2del (p.Met1fs)	rs2057942403
NM_006950.3(SYN1):c.39del (p.Phe13fs)
NM_006950.3(SYN1):c.528-2A>T	rs1556860663
NM_006950.3(SYN1):c.975del (p.Tyr326fs)

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