ClinVar Miner

List of variants in gene NAGA, WBP2NL studied for alpha-N-acetylgalactosaminidase deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000262.2(NAGA):c.*1035G>A rs62238588
NM_000262.2(NAGA):c.*1090G>A rs886057594
NM_000262.2(NAGA):c.*1252T>C rs886057593
NM_000262.2(NAGA):c.*1299C>T rs886057592
NM_000262.2(NAGA):c.*1333T>C rs1063392
NM_000262.2(NAGA):c.*1501C>G rs750373836
NM_000262.2(NAGA):c.*1696C>T rs11703233
NM_000262.2(NAGA):c.*1788_*1789delTT rs10713176
NM_000262.2(NAGA):c.*1789delT rs10713176
NM_000262.2(NAGA):c.*1814C>T rs80313011
NM_000262.2(NAGA):c.*1929C>T rs5758566
NM_000262.2(NAGA):c.*926C>G rs886057595

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