ClinVar Miner

List of variants studied for 2-hydroxyglutaric aciduria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.685-2A>G rs753528947 0.00011
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_024884.3(L2HGDH):c.1081del (p.Ala361fs) rs2503494605
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.140+2_140+8del rs752314078

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