ClinVar Miner

List of variants in gene CTSA, NEURL2 studied for Combined deficiency of sialidase AND beta galactosidase

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000308.3(CTSA):c.-223G>A rs117529875 0.01440
NM_000308.3(CTSA):c.-172A>C rs184484066 0.00832
NM_000308.3(CTSA):c.-292T>C rs554749359 0.00158
NM_000308.3(CTSA):c.-271G>A rs566739434 0.00006
NM_000308.3(CTSA):c.-234C>G rs558829056 0.00001
NM_000308.3(CTSA):c.-237delT rs886056711 0.00001
NM_000308.3(CTSA):c.-238delC rs554760054

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