List of variants in gene CLN8 studied for Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_018941.4(CLN8):c.-123-4T>C	rs114189810	0.00505
NM_018941.4(CLN8):c.777T>C (p.Asn259=)	rs34814682	0.00334
NM_018941.4(CLN8):c.11C>T (p.Ala4Val)	rs147181589	0.00175
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	rs142269885	0.00083
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)	rs146579299	0.00068
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	rs139003032	0.00016
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)	rs373957283	0.00013
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)	rs142104002	0.00010
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)	rs749651452	0.00010
NM_018941.4(CLN8):c.300G>A (p.Gln100=)	rs148988002	0.00008
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)	rs144495588	0.00004
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys)	rs756636772	0.00004
NM_018941.4(CLN8):c.844C>T (p.Arg282Trp)	rs587780898	0.00004
NM_018941.4(CLN8):c.288G>A (p.Ala96=)	rs533351136	0.00003
NM_018941.4(CLN8):c.697C>G (p.Leu233Val)	rs1380901432	0.00003
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)	rs536738656	0.00001
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.1del (p.Met1*)
NM_018941.4(CLN8):c.353dup (p.Asn118fs)
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile)	rs142269885
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)	rs386834129
NM_018941.4(CLN8):c.609C>A (p.Cys203Ter)
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)	rs104894064
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
NM_018941.4(CLN8):c.94T>G (p.Phe32Val)	rs758068226
NM_018941.4(CLN8):c.98T>C (p.Val33Ala)	rs1301388199

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