ClinVar Miner

List of variants reported as pathogenic for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E by Invitae

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.4(INF2):c.170T>C (p.Leu57Pro) rs1595163736
NM_022489.4(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.4(INF2):c.230T>C (p.Leu77Pro) rs1595163851
NM_022489.4(INF2):c.271C>G (p.Arg91Gly) rs200247054
NM_022489.4(INF2):c.310T>C (p.Cys104Arg) rs387907034
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.341G>A (p.Gly114Asp) rs1595164091
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) rs1555373599
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.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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