ClinVar Miner

List of variants reported as pathogenic for Focal segmental glomerulosclerosis

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs) rs1589475328
NM_022489.4(INF2):c.542T>G (p.Val181Gly) rs2140648160
NM_033380.3(COL4A5):c.1815del (p.Asn607fs) rs2066568818

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