List of variants in gene combination CTSA, LOC130065974 reported as likely benign for Combined deficiency of sialidase AND beta galactosidase

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000308.4(CTSA):c.55_57del (p.Leu19del)	rs544157818	0.00002
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del)	rs886039898
NM_000308.4(CTSA):c.54G>C (p.Leu18=)	rs181943893
NM_000308.4(CTSA):c.54G>T (p.Leu18=)	rs181943893
NM_000308.4(CTSA):c.57A>G (p.Leu19=)
NM_000308.4(CTSA):c.60G>A (p.Val20=)
NM_000308.4(CTSA):c.69G>T (p.Ala23=)

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