ClinVar Miner

List of variants reported as likely pathogenic for Alpha-N-acetylgalactosaminidase deficiency type 1 by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	rs121434529	0.00225
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)	rs779423223

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