ClinVar Miner

List of variants in gene INF2 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 17
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HGVS dbSNP
NM_022489.4(INF2):c.*10C>T rs142710295
NM_022489.4(INF2):c.170T>C (p.Leu57Pro) rs1595163736
NM_022489.4(INF2):c.170T>G (p.Leu57Arg) rs1595163736
NM_022489.4(INF2):c.203T>C (p.Phe68Ser) rs1595163801
NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del) rs1595163808
NM_022489.4(INF2):c.206T>C (p.Leu69Pro) rs1595163820
NM_022489.4(INF2):c.230T>C (p.Leu77Pro) rs1595163851
NM_022489.4(INF2):c.230T>G (p.Leu77Arg) rs1595163851
NM_022489.4(INF2):c.314T>G (p.Val105Gly) rs1555373363
NM_022489.4(INF2):c.317G>C (p.Arg106Pro) rs1595164070
NM_022489.4(INF2):c.323T>A (p.Val108Asp) rs1595164081
NM_022489.4(INF2):c.341G>A (p.Gly114Asp) rs1595164091
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022489.4(INF2):c.494T>C (p.Leu165Pro) rs1595165937
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.640C>T (p.Arg214Cys) rs912928648
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015

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