List of variants studied for D-2-hydroxyglutaric aciduria by Baylor Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)	rs201921601	0.00027
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)	rs142624021	0.00025
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)	rs112424377	0.00014
NM_152783.5(D2HGDH):c.685-2A>G	rs753528947	0.00011
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp)	rs1437082537	0.00005
NM_152783.5(D2HGDH):c.1337C>T (p.Ala446Val)	rs746956176	0.00002
NM_002168.4(IDH2):c.373+5G>A	rs1901004338	0.00001
NM_152783.5(D2HGDH):c.463C>T (p.Arg155Trp)	rs763345820	0.00001
NM_152783.5(D2HGDH):c.551G>A (p.Arg184Gln)	rs927869057	0.00001
NM_002168.4(IDH2):c.877A>C (p.Met293Leu)	rs1900881296
NM_152783.5(D2HGDH):c.350+10_350+12del	rs1694331906

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