ClinVar Miner

List of variants reported as uncertain significance for Focal segmental glomerulosclerosis by Illumina Laboratory Services, Illumina

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_004621.6(TRPC6):c.-319del rs886047541 0.00031
NM_012120.3(CD2AP):c.*490G>A rs886061528 0.00011
NM_004621.6(TRPC6):c.739C>T (p.Arg247Trp) rs201859973 0.00003
NM_012120.3(CD2AP):c.*1466del rs886061541
NM_012120.3(CD2AP):c.*2116_*2118del rs886061545
NM_012120.3(CD2AP):c.*451_*452insGT rs886061523
NM_012120.3(CD2AP):c.*452_*455del rs886061524
NM_012120.3(CD2AP):c.*454GT[18] rs60486147
NM_012120.3(CD2AP):c.*454GT[19] rs60486147
NM_012120.3(CD2AP):c.*454GT[20] rs60486147
NM_012120.3(CD2AP):c.*454GT[22] rs60486147
NM_012120.3(CD2AP):c.*454GT[23] rs60486147
NM_012120.3(CD2AP):c.*454GT[24] rs60486147
NM_012120.3(CD2AP):c.*492_*497del rs886061529
NM_012120.3(CD2AP):c.*494_*499del rs886061530
NM_012120.3(CD2AP):c.*494_*503del rs777904165
NM_012120.3(CD2AP):c.*495_*496insGTAT rs886061525
NM_012120.3(CD2AP):c.*495_*496insGTGTAT rs886061525
NM_012120.3(CD2AP):c.*496AT[5] rs71538327
NM_012120.3(CD2AP):c.*496AT[7] rs71538327
NM_012120.3(CD2AP):c.*496_*502delinsGTGTGTGTGTG rs886061535
NM_012120.3(CD2AP):c.*496_*504delinsGTGTG rs886061536
NM_012120.3(CD2AP):c.*496delinsGTGTGTGTG rs886061534
NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTG rs886061534
NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTGTG rs886061534
NM_012120.3(CD2AP):c.-4dup rs886061517
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del) rs573567814

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