List of variants studied for Enchondromatosis

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met)	rs118053940	0.00372
NM_001530.4(HIF1A):c.1264G>T (p.Asp422Tyr)	rs149348765	0.00218
NM_005896.4(IDH1):c.565A>G (p.Ile189Val)	rs62193615	0.00054
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)	rs142816010	0.00035
NM_000551.4(VHL):c.538A>G (p.Ile180Val)	rs377715747	0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	rs121913499	0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His)	rs121913500	0.00001
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	rs373068386
NM_001146696.2(KDM4C):c.11A>G (p.Tyr4Cys)
NM_001530.4(HIF1A):c.1892G>A (p.Arg631His)
NM_001530.4(HIF1A):c.2075C>G (p.Ser692Cys)
NM_001530.4(HIF1A):c.644C>T (p.Pro215Leu)
NM_015061.6(KDM4C):c.2320G>A (p.Ala774Thr)

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