List of variants in gene CLN8 reported as uncertain significance for Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8

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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: 15

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HGVS	dbSNP	gnomAD frequency
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.556G>A (p.Glu186Lys)	rs756636772	0.00004
NM_018941.4(CLN8):c.844C>T (p.Arg282Trp)	rs587780898	0.00004
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.374A>T (p.Asn125Ile)	rs142269885
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)	rs386834129
NM_018941.4(CLN8):c.94T>G (p.Phe32Val)	rs758068226
NM_018941.4(CLN8):c.98T>C (p.Val33Ala)	rs1301388199

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