List of variants in gene CLN6 reported as uncertain significance for not specified

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)	rs143578698	0.00159
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)	rs547125345	0.00120
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr)	rs146198681	0.00022
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)	rs150001589	0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)	rs767164948	0.00006
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)	rs587780316	0.00004
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)	rs886285802	0.00003
NM_017882.3(CLN6):c.407G>A (p.Arg136His)	rs769701646	0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)	rs750937323	0.00001
NC_000015.9:g.(68504202_68506627)_(68522067_?)dup
NM_017882.3(CLN6):c.119C>T (p.Thr40Met)	rs769199442
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)	rs777921628
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)	rs772893554
NM_017882.3(CLN6):c.507CTA[1] (p.Tyr172del)	rs2093204286
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)	rs750081097
NM_017882.3(CLN6):c.710C>T (p.Thr237Ile)
NM_017882.3(CLN6):c.721A>G (p.Met241Val)	rs753994750
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)	rs755397770

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