ClinVar Miner

List of variants in gene INF2 studied for Charcot-Marie-Tooth disease

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Total variants: 16
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HGVS dbSNP
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)
NM_022489.4(INF2):c.170T>G (p.Leu57Arg)
NM_022489.4(INF2):c.203T>C (p.Phe68Ser)
NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del)
NM_022489.4(INF2):c.206T>C (p.Leu69Pro)
NM_022489.4(INF2):c.230T>C (p.Leu77Pro)
NM_022489.4(INF2):c.230T>G (p.Leu77Arg)
NM_022489.4(INF2):c.314T>G (p.Val105Gly)
NM_022489.4(INF2):c.317G>C (p.Arg106Pro)
NM_022489.4(INF2):c.323T>A (p.Val108Asp)
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)
NM_022489.4(INF2):c.494T>C (p.Leu165Pro)
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015

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