List of variants in gene CTSD reported as likely pathogenic for Neuronal ceroid lipofuscinosis

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)	rs796052407	0.00004
NM_001909.5(CTSD):c.675_704+1dup	rs2493823379
NM_001909.5(CTSD):c.68+1G>A	rs2493834457
NM_001909.5(CTSD):c.704+1G>C
NM_001909.5(CTSD):c.704+1G>T	rs760929484
NM_001909.5(CTSD):c.824_827+30del	rs2133659840
NM_001909.5(CTSD):c.827+2T>C	rs1845791308
NM_001909.5(CTSD):c.828-2A>C	rs2493817237
NM_001909.5(CTSD):c.972+1G>C	rs2493816828

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