List of variants in gene CTSF reported as likely pathogenic for Neuronal ceroid lipofuscinosis 13

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_003793.4(CTSF):c.1046-2A>C	rs141915593	0.00025
NM_003793.4(CTSF):c.1045+1G>T	rs1456291681	0.00001
NM_003793.4(CTSF):c.1165+2T>G
NM_003793.4(CTSF):c.1171del (p.Ala391fs)
NM_003793.4(CTSF):c.1267_1277dup (p.Trp427fs)
NM_003793.4(CTSF):c.1316del (p.Gly439fs)
NM_003793.4(CTSF):c.213+2T>A
NM_003793.4(CTSF):c.530_531+11del	rs2134954887
NM_003793.4(CTSF):c.934C>T (p.Gln312Ter)
NM_003793.4(CTSF):c.965-1G>A	rs1051519244
NM_003793.4(CTSF):c.971T>C (p.Leu324Ser)

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