ClinVar Miner

List of variants reported as pathogenic for Focal segmental glomerulosclerosis 5 by OMIM

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Total variants: 5
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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.125T>C (p.Leu42Pro) rs267606880
NM_022489.4(INF2):c.556T>C (p.Ser186Pro) rs267606877
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183

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