ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
Download table as spreadsheet
HGVS dbSNP
NM_004621.6(TRPC6):c.*1020G>A rs201292926
NM_004621.6(TRPC6):c.*1176T>C rs886047535
NM_004621.6(TRPC6):c.*1349T>C rs180930016
NM_004621.6(TRPC6):c.*1380G>A rs747229991
NM_004621.6(TRPC6):c.*575C>A rs200705719
NM_004621.6(TRPC6):c.*821C>T rs886047536
NM_004621.6(TRPC6):c.-125C>T rs201034657
NM_004621.6(TRPC6):c.-143C>T rs886047539
NM_004621.6(TRPC6):c.-243C>T rs199601311
NM_004621.6(TRPC6):c.-317C>G rs886047540
NM_004621.6(TRPC6):c.-319del rs886047541
NM_004621.6(TRPC6):c.-344C>G rs867713895
NM_004621.6(TRPC6):c.-35G>A rs886047538
NM_004621.6(TRPC6):c.-406C>A rs886047542
NM_004621.6(TRPC6):c.1057C>T (p.Leu353Phe) rs775521973
NM_004621.6(TRPC6):c.1780A>G (p.Ile594Val) rs758348046
NM_004621.6(TRPC6):c.1886G>C (p.Arg629Thr) rs775034304
NM_004621.6(TRPC6):c.1928T>C (p.Met643Thr) rs773581652
NM_004621.6(TRPC6):c.213T>A (p.Val71=) rs138123801
NM_004621.6(TRPC6):c.2410-11A>G rs886047537
NM_004621.6(TRPC6):c.2508T>C (p.Ser836=) rs377172208
NM_004621.6(TRPC6):c.2574A>C (p.Ile858=) rs751323115
NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile) rs201363468
NM_004621.6(TRPC6):c.739C>T (p.Arg247Trp) rs201859973
NM_012120.3(CD2AP):c.*1466del rs886061541
NM_012120.3(CD2AP):c.*1606G>A rs886061542
NM_012120.3(CD2AP):c.*1927T>G rs886061543
NM_012120.3(CD2AP):c.*2037C>G rs886061544
NM_012120.3(CD2AP):c.*2116_*2118del rs886061545
NM_012120.3(CD2AP):c.*2118T>A rs886061546
NM_012120.3(CD2AP):c.*2232C>T rs886061548
NM_012120.3(CD2AP):c.*2369G>A rs886061549
NM_012120.3(CD2AP):c.*2445C>T rs886061550
NM_012120.3(CD2AP):c.*2449C>A rs878891637
NM_012120.3(CD2AP):c.*2705A>G rs775329134
NM_012120.3(CD2AP):c.*319A>C rs532632702
NM_012120.3(CD2AP):c.*451_*452insGT rs886061523
NM_012120.3(CD2AP):c.*452C>G rs183129840
NM_012120.3(CD2AP):c.*452_*455del rs886061524
NM_012120.3(CD2AP):c.*454_*455GT[18] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[19] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[20] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[22] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[23] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[24] rs60486147
NM_012120.3(CD2AP):c.*490G>A rs886061528
NM_012120.3(CD2AP):c.*492G>A rs866946718
NM_012120.3(CD2AP):c.*492_*497del rs886061529
NM_012120.3(CD2AP):c.*494G>A rs867559785
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.*496A>G rs9463343
NM_012120.3(CD2AP):c.*496_*497AT[5] rs71538327
NM_012120.3(CD2AP):c.*496_*497AT[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.*498A>G rs36077218
NM_012120.3(CD2AP):c.*652A>G rs886061537
NM_012120.3(CD2AP):c.*707G>A rs886061538
NM_012120.3(CD2AP):c.*866C>T rs886061539
NM_012120.3(CD2AP):c.-130C>G rs886061516
NM_012120.3(CD2AP):c.-191G>A rs886061514
NM_012120.3(CD2AP):c.-197C>T rs886061513
NM_012120.3(CD2AP):c.-324G>C rs886061512
NM_012120.3(CD2AP):c.-329C>T rs886061511
NM_012120.3(CD2AP):c.-438C>T rs191920077
NM_012120.3(CD2AP):c.-4dup rs886061517
NM_012120.3(CD2AP):c.1188C>G (p.Thr396=) rs147254896
NM_012120.3(CD2AP):c.1404C>T (p.Thr468=) rs145347609
NM_012120.3(CD2AP):c.1569_1571AGA[2] (p.Glu525del) rs545551160
NM_012120.3(CD2AP):c.1633-6T>A rs886061522
NM_012120.3(CD2AP):c.326A>G (p.Lys109Arg) rs886061518
NM_012120.3(CD2AP):c.400A>G (p.Ile134Val) rs747832531
NM_012120.3(CD2AP):c.401T>A (p.Ile134Asn) rs886061519
NM_012120.3(CD2AP):c.530A>G (p.Gln177Arg) rs886061520
NM_012120.3(CD2AP):c.541+14T>A rs766983546
NM_022489.4(INF2):c.*232G>A rs886050384
NM_022489.4(INF2):c.*815C>T rs886050385
NM_022489.4(INF2):c.-50G>A rs886050379
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser) rs376942822
NM_022489.4(INF2):c.1262_1267CACCCC[3] (p.Pro427_Pro428del) rs573567814
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051
NM_022489.4(INF2):c.1777G>A (p.Glu593Lys) rs775320095
NM_022489.4(INF2):c.2009A>G (p.Glu670Gly) rs886050381
NM_022489.4(INF2):c.2022A>T (p.Gln674His) rs886050382
NM_022489.4(INF2):c.2201T>G (p.Val734Gly) rs754128624
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile) rs377414980
NM_022489.4(INF2):c.3190T>C (p.Leu1064=) rs886050383
NM_022489.4(INF2):c.3206C>T (p.Pro1069Leu) rs376139171
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955
NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr) rs374684004
NM_022489.4(INF2):c.966C>T (p.Ala322=) rs774024906
NM_022489.4(INF2):c.986-14A>G rs774186716

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.