List of variants in gene CLN8 reported as likely benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_018941.4(CLN8):c.*25G>A	rs200904267	0.00185
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.513C>G (p.Pro171=)	rs376910635	0.00073
NM_018941.4(CLN8):c.318C>T (p.His106=)	rs184988046	0.00018
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	rs139003032	0.00016
NM_018941.4(CLN8):c.207G>A (p.Thr69=)	rs368365607	0.00014
NM_018941.4(CLN8):c.333G>A (p.Thr111=)	rs377273687	0.00012
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)	rs138821993	0.00010
NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)	rs138581191	0.00009
NM_018941.4(CLN8):c.15C>T (p.Ser5=)	rs374597781	0.00008
NM_018941.4(CLN8):c.708C>T (p.Val236=)	rs200760828	0.00006
NM_018941.4(CLN8):c.279C>T (p.Ala93=)	rs372313992	0.00004
NM_018941.4(CLN8):c.*14G>T	rs551042352	0.00003
NM_018941.4(CLN8):c.270G>A (p.Val90=)	rs561448346	0.00003
NM_018941.4(CLN8):c.-124+7G>A	rs1003657407	0.00001
NM_018941.4(CLN8):c.-1A>T	rs796052362	0.00001
NM_018941.4(CLN8):c.186C>T (p.Val62=)	rs1057522154	0.00001
NM_018941.4(CLN8):c.780G>A (p.Pro260=)	rs761984333	0.00001
NM_018941.4(CLN8):c.831C>T (p.Asn277=)	rs200083273	0.00001
NM_018941.4(CLN8):c.843G>A (p.Leu281=)	rs367703234	0.00001
NM_018941.4(CLN8):c.-113G>T	rs374723418
NM_018941.4(CLN8):c.-116A>T	rs1410788848
NM_018941.4(CLN8):c.-120G>A	rs1057520272
NM_018941.4(CLN8):c.-121T>A	rs1554448797
NM_018941.4(CLN8):c.-122T>G	rs796052361
NM_018941.4(CLN8):c.-123-328C>G	rs147182852
NM_018941.4(CLN8):c.297G>A (p.Gln99=)	rs1057521001
NM_018941.4(CLN8):c.363C>A (p.Val121=)	rs568852954
NM_018941.4(CLN8):c.46C>T (p.Leu16=)	rs386834129
NM_018941.4(CLN8):c.495C>T (p.Leu165=)	rs772106347
NM_018941.4(CLN8):c.648C>T (p.Phe216=)	rs564074916

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