List of variants in gene IDH2, IDH2-DT studied for D-2-hydroxyglutaric aciduria 2

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_002168.4(IDH2):c.23T>C (p.Val8Ala)	rs369445642	0.00231
NM_002168.4(IDH2):c.16C>A (p.Arg6=)	rs549177872	0.00146
NM_002168.4(IDH2):c.27C>T (p.Arg9=)	rs773877161	0.00020
NM_002168.4(IDH2):c.75C>T (p.Ala25=)	rs754996897	0.00011
NM_002168.4(IDH2):c.62G>C (p.Trp21Ser)	rs776341694	0.00006
NM_002168.4(IDH2):c.65C>T (p.Ala22Val)	rs770871840	0.00005
NM_002168.4(IDH2):c.68C>G (p.Pro23Arg)	rs746881165	0.00002
NM_002168.4(IDH2):c.104C>A (p.Pro35Gln)
NM_002168.4(IDH2):c.109C>T (p.Arg37Cys)	rs1567261734
NM_002168.4(IDH2):c.115+14G>A
NM_002168.4(IDH2):c.115+9C>A	rs1901354749
NM_002168.4(IDH2):c.21C>T (p.Val7=)
NM_002168.4(IDH2):c.29C>T (p.Ser10Leu)	rs1234438811
NM_002168.4(IDH2):c.47G>A (p.Gly16Asp)
NM_002168.4(IDH2):c.62G>A (p.Trp21Ter)
NM_002168.4(IDH2):c.69G>C (p.Pro23=)
NM_002168.4(IDH2):c.76C>T (p.Leu26=)
NM_002168.4(IDH2):c.88A>T (p.Thr30Ser)

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