ClinVar Miner

List of variants reported as likely benign for D-2-hydroxyglutaric aciduria 1 by Invitae

Included ClinVar conditions (2):
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Total variants: 15
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HGVS dbSNP
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1242C>T (p.Ile414=) rs758849873
NM_152783.5(D2HGDH):c.1306+10G>A
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys) rs143460342
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002
NM_152783.5(D2HGDH):c.198C>T (p.Asp66=)
NM_152783.5(D2HGDH):c.228C>T (p.Gly76=) rs771597564
NM_152783.5(D2HGDH):c.327G>A (p.Ser109=) rs374304979
NM_152783.5(D2HGDH):c.351-8C>T rs368141783
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=) rs140447217
NM_152783.5(D2HGDH):c.76C>T (p.Arg26Trp) rs146696295
NM_152783.5(D2HGDH):c.840C>T (p.Asn280=)
NM_152783.5(D2HGDH):c.924T>G (p.Ser308=)
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359

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