ClinVar Miner

List of variants reported as likely pathogenic for Asparagine synthetase deficiency

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Total variants: 5
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HGVS dbSNP
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_001673.5(ASNS):c.202C>A (p.Pro68Thr) rs1554350554
NM_133436.3(ASNS):c.1648C>T rs398122974
NM_183356.3(ASNS):c.1030+1G>A rs780288372
NM_183356.3(ASNS):c.1165G>C (p.Glu389Gln) rs948326794

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