List of variants in gene CTSA reported as likely pathogenic for Combined deficiency of sialidase AND beta galactosidase

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000308.4(CTSA):c.601-2A>G	rs778159802	0.00003
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)	rs137854540	0.00002
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)	rs1189568492	0.00001
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)	rs137854541	0.00001
NM_000308.4(CTSA):c.869+1G>C	rs1987148852	0.00001
NM_000308.4(CTSA):c.1088+1G>A
NM_000308.4(CTSA):c.112del (p.Leu38fs)	rs1241378191
NM_000308.4(CTSA):c.1255-1G>A
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu)	rs137854542
NM_000308.4(CTSA):c.306+2T>A
NM_000308.4(CTSA):c.358-2A>G
NM_000308.4(CTSA):c.445-18_447del	rs1987030082
NM_000308.4(CTSA):c.445-1G>C
NM_000308.4(CTSA):c.521T>C (p.Leu174Pro)	rs2145815915
NM_000308.4(CTSA):c.601-2A>C
NM_000308.4(CTSA):c.948+13_954delinsAGA
NM_000308.4(CTSA):c.948+1G>A

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