List of variants reported as likely pathogenic for 2-hydroxyglutaric aciduria by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val)	rs369324431	0.00006
NM_024884.3(L2HGDH):c.1064+1G>A	rs1389374650
NM_024884.3(L2HGDH):c.1065-2A>G	rs2503494836
NM_024884.3(L2HGDH):c.738G>A (p.Lys246=)	rs771091083
NM_152783.5(D2HGDH):c.326C>G (p.Ser109Trp)	rs142050154
NM_152783.5(D2HGDH):c.853+2T>C	rs1559364994

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