ClinVar Miner

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

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Total variants: 6
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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.271C>G (p.Arg91Gly)
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) rs1555373599
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183

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