ClinVar Miner

List of variants reported as benign for alpha-N-acetylgalactosaminidase deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000262.3(NAGA):c.*1333T>C rs1063392
NM_000262.3(NAGA):c.*1788_*1789del rs10713176
NM_000262.3(NAGA):c.*1929C>T rs5758566
NM_000262.3(NAGA):c.-208G>C rs133375
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369
NM_000262.3(NAGA):c.598-15C>T rs2854827

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