List of variants reported as likely benign for Combined deficiency of sialidase AND beta galactosidase by Illumina Laboratory Services, Illumina

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_080749.4(NEURL2):c.-112C>T	rs117529875	0.01440
NM_000308.3(CTSA):c.-43G>T	rs116893852	0.01437
NM_080749.4(NEURL2):c.-163T>G	rs184484066	0.00832
NM_000308.4(CTSA):c.*51C>G	rs375835315	0.00438
NM_000308.4(CTSA):c.1287G>A (p.Lys429=)	rs41282776	0.00321
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn)	rs142892564	0.00309
NM_000308.4(CTSA):c.105C>T (p.Ile35=)	rs150140984	0.00238
NM_000308.4(CTSA):c.468C>T (p.Ala156=)	rs190565374	0.00012
NM_000308.4(CTSA):c.1036G>A (p.Val346Met)	rs137941635	0.00011

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