ClinVar Miner

List of variants in gene IDH2 studied for Inborn genetic diseases

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_002168.4(IDH2):c.588C>G (p.Phe196Leu) rs758536587 0.00003
NM_002168.4(IDH2):c.1171C>T (p.Leu391Phe) rs1247633248 0.00002
NM_002168.4(IDH2):c.1156G>C (p.Asp386His) rs774323865 0.00001
NM_002168.4(IDH2):c.121G>A (p.Asp41Asn)
NM_002168.4(IDH2):c.205A>G (p.Lys69Glu)
NM_002168.4(IDH2):c.742A>C (p.Met248Leu)
NM_002168.4(IDH2):c.854A>G (p.Tyr285Cys)

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