List of variants studied for 2-hydroxyglutaric aciduria by Genetic Services Laboratory, University of Chicago

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)	rs149504235	0.00235
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)	rs201921601	0.00027
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=)	rs564306903	0.00002
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu)	rs587783517	0.00001
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs)	rs1555328749
NM_024884.3(L2HGDH):c.1115del (p.Met372fs)	rs786200869
NM_024884.3(L2HGDH):c.465del (p.Gly156fs)	rs797045678
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys)	rs887386390
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)	rs797045506
NM_152783.5(D2HGDH):c.1306+2T>C	rs797045507

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