ClinVar Miner

List of variants in gene IDH2 reported as uncertain significance for Enchondromatosis

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met)	rs118053940	0.00372
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)	rs142816010	0.00035

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