ClinVar Miner

List of variants reported as likely benign for Alpha-N-acetylgalactosaminidase deficiency type 1 by Invitae

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Total variants: 12
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HGVS dbSNP
NM_000262.3(NAGA):c.1146T>C (p.Asp382=) rs6002590
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000262.3(NAGA):c.360G>A (p.Ala120=) rs149600926
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) rs141557187
NM_000262.3(NAGA):c.502+8A>T rs375946807
NM_000262.3(NAGA):c.598-9G>A
NM_000262.3(NAGA):c.759+10T>G
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile) rs140238609
NM_000262.3(NAGA):c.837C>A (p.Pro279=) rs149066012
NM_000262.3(NAGA):c.903C>T (p.Leu301=) rs765754053
NM_000262.3(NAGA):c.957+7G>A rs1193330730
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281

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