ClinVar Miner

List of variants in gene INF2 reported as pathogenic for Focal segmental glomerulosclerosis 5

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Total variants: 10
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HGVS dbSNP
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.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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