ClinVar Miner

List of variants in gene NAGA reported as uncertain significance for alpha-N-acetylgalactosaminidase deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000262.3(NAGA):c.*155A>G rs761125179
NM_000262.3(NAGA):c.*176C>G rs191051580
NM_000262.3(NAGA):c.*268G>A rs886057596
NM_000262.3(NAGA):c.*555C>T rs141688392
NM_000262.3(NAGA):c.-306C>A rs886057598
NM_000262.3(NAGA):c.-43C>T rs753592199
NM_000262.3(NAGA):c.-496G>C rs886057599
NM_000262.3(NAGA):c.-502A>C rs886057600
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) rs778343270
NM_000262.3(NAGA):c.110G>A (p.Arg37His) rs199834981
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln)
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) rs1569456853
NM_000262.3(NAGA):c.16G>A (p.Val6Met)
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) rs886057597
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.406G>C (p.Asp136His)
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089
NM_000262.3(NAGA):c.638G>A (p.Arg213His) rs781499383
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys) rs368220690
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281

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