ClinVar Miner

List of variants reported as uncertain significance for alpha-N-acetylgalactosaminidase deficiency by Invitae

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.1142G>A (p.Arg381Gln) rs144771084
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) rs1569456853
NM_000262.3(NAGA):c.16G>A (p.Val6Met) rs1602499597
NM_000262.3(NAGA):c.406G>C (p.Asp136His) rs186173534
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) rs372458856
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)

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