ClinVar Miner

List of variants in gene INF2 reported as pathogenic

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Gene type:
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Total variants: 17
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INF2, 9-BP DEL, NT490
NM_022489.4(INF2):c.125T>C (p.Leu42Pro) rs267606880
NM_022489.4(INF2):c.217G>A (p.Gly73Ser) rs1566777560
NM_022489.4(INF2):c.310T>C (p.Cys104Arg) rs387907034
NM_022489.4(INF2):c.311G>T (p.Cys104Phe) rs387907035
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.395T>G (p.Leu132Arg) rs387907038
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) rs1555373599
NM_022489.4(INF2):c.530G>A (p.Arg177His) rs1566778651
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.556T>C (p.Ser186Pro) rs267606877
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015

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