List of variants in gene CLN6 reported as pathogenic for not provided

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)	rs154774640	0.00002
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)	rs143781303	0.00001
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NM_017882.3(CLN6):c.144G>A (p.Trp48Ter)	rs2141145074
NM_017882.3(CLN6):c.198+1G>A	rs886039727
NM_017882.3(CLN6):c.1_11del (p.Met1fs)
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)	rs104894483
NM_017882.3(CLN6):c.297+1G>A	rs796052351
NM_017882.3(CLN6):c.316dup (p.Arg106fs)	rs397515352
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)	rs774543080
NM_017882.3(CLN6):c.397_398del (p.Val133fs)	rs766493088
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)	rs919850756
NM_017882.3(CLN6):c.486+2T>C	rs796052355
NM_017882.3(CLN6):c.665+1G>A	rs796052356
NM_017882.3(CLN6):c.669C>G (p.Tyr223Ter)	rs374271754
NM_017882.3(CLN6):c.721A>G (p.Met241Val)	rs753994750
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	rs768422260
NM_017882.3(CLN6):c.890del (p.Pro297fs)	rs154774639

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