List of variants in gene CTSF reported as pathogenic for cerebral lipidosis with dementia

Minimum submission review status:		Collection method:
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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys)	rs143889283	0.00008
NM_003793.4(CTSF):c.954del (p.Ser319fs)	rs753084727	0.00003
NM_003793.4(CTSF):c.1119dup (p.Lys374fs)
NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr)	rs1565311875
NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala)	rs397514732
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)	rs397514733
NM_003793.4(CTSF):c.213+1G>C	rs797045136
NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter)	rs758004789
NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)
NM_003793.4(CTSF):c.843_844del (p.Ala282fs)	rs1555058286
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)	rs397514731
NM_003793.4(CTSF):c.992del (p.Lys331fs)

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