ClinVar Miner

List of variants studied for Maffucci syndrome

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly) rs2136556852
NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)

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