ClinVar Miner

List of variants reported as benign for D-2-hydroxyglutaric aciduria 1 by Nilou-Genome Lab

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Total variants: 7
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HGVS dbSNP
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.5(D2HGDH):c.1307-24A>G rs6756901
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364
NM_152783.5(D2HGDH):c.292+28T>G rs62191977
NM_152783.5(D2HGDH):c.293-18A>G rs4073889
NM_152783.5(D2HGDH):c.490+40T>C rs78147778
NM_152783.5(D2HGDH):c.685-9T>C rs4234097

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