ClinVar Miner

List of variants reported as benign for 2-hydroxyglutaric aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_152783.5(D2HGDH):c.*449C>T rs4234096
NM_152783.5(D2HGDH):c.*778C>T rs6746151
NM_152783.5(D2HGDH):c.-99A>G rs7370843
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887
NM_152783.5(D2HGDH):c.685-9T>C rs4234097

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