List of variants in gene CLN8 reported as likely pathogenic for genetic generalized epilepsy

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)	rs146579299	0.00068
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)	rs144495588	0.00004
NM_018941.4(CLN8):c.295C>T (p.Gln99Ter)	rs750162094	0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)	rs386834130	0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	rs104894060	0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)	rs587779411	0.00001
NM_018941.4(CLN8):c.353dup (p.Asn118fs)
NM_018941.4(CLN8):c.609C>A (p.Cys203Ter)
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)

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