ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_004621.6(TRPC6):c.*1038T>G rs142655335 0.00123
NM_004621.6(TRPC6):c.*575C>A rs200705719 0.00044
NM_022489.4(INF2):c.*803G>A rs555692643 0.00041
NM_004621.6(TRPC6):c.*175A>C rs199878670 0.00038
NM_004621.6(TRPC6):c.*668G>A rs200307747 0.00038
NM_004621.6(TRPC6):c.-243C>T rs199601311 0.00029
NM_004621.6(TRPC6):c.-125C>T rs201034657 0.00025
NM_004621.6(TRPC6):c.374A>G (p.Asn125Ser) rs146776939 0.00022
NM_004621.6(TRPC6):c.*792G>A rs201986308 0.00018
NM_004621.6(TRPC6):c.-143C>T rs886047539 0.00015
NM_022489.4(INF2):c.966C>T (p.Ala322=) rs774024906 0.00013
NM_004621.6(TRPC6):c.*1380G>A rs747229991 0.00009
NM_022489.4(INF2):c.1197C>T (p.His399=) rs746493706 0.00009
NM_022489.4(INF2):c.3654C>T (p.Thr1218=) rs557462297 0.00009
NM_022489.4(INF2):c.597C>T (p.Ser199=) rs372269719 0.00007
NM_022489.4(INF2):c.*447A>T rs749782054 0.00006
NM_022489.4(INF2):c.1448C>T (p.Ser483Phe) rs753188664 0.00006
NM_004621.6(TRPC6):c.1612G>A (p.Ala538Thr) rs753943966 0.00005
NM_022489.4(INF2):c.*311T>A rs975205957 0.00005
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334 0.00005
NM_004621.6(TRPC6):c.-205C>T rs533735159 0.00004
NM_004621.6(TRPC6):c.-343C>G rs200074836 0.00004
NM_004621.6(TRPC6):c.375C>T (p.Asn125=) rs201643083 0.00004
NM_004621.6(TRPC6):c.*1386C>G rs375701506 0.00003
NM_004621.6(TRPC6):c.2508T>C (p.Ser836=) rs377172208 0.00003
NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile) rs201363468 0.00003
NM_022489.4(INF2):c.*314G>A rs921070326 0.00003
NM_022489.4(INF2):c.2201T>G (p.Val734Gly) rs754128624 0.00003
NM_022489.4(INF2):c.2847G>A (p.Ala949=) rs754546219 0.00003
NM_004621.6(TRPC6):c.1057C>T (p.Leu353Phe) rs775521973 0.00002
NM_004621.6(TRPC6):c.2574A>C (p.Ile858=) rs751323115 0.00002
NM_022489.4(INF2):c.18C>T (p.Gly6=) rs1032255653 0.00002
NM_022489.4(INF2):c.2775+13G>A rs759589756 0.00002
NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser) rs201091360 0.00002
NM_004621.6(TRPC6):c.*1020G>A rs201292926 0.00001
NM_004621.6(TRPC6):c.-276G>A rs1015092035 0.00001
NM_004621.6(TRPC6):c.-35G>A rs886047538 0.00001
NM_004621.6(TRPC6):c.-406C>A rs886047542 0.00001
NM_004621.6(TRPC6):c.18G>A (p.Ala6=) rs891868712 0.00001
NM_004621.6(TRPC6):c.1928T>C (p.Met643Thr) rs773581652 0.00001
NM_004621.6(TRPC6):c.2009+1G>A rs199611561 0.00001
NM_004621.6(TRPC6):c.2410-11A>G rs886047537 0.00001
NM_004621.6(TRPC6):c.642A>G (p.Thr214=) rs369124216 0.00001
NM_022489.4(INF2):c.*153C>T rs899450753 0.00001
NM_022489.4(INF2):c.*232G>A rs886050384 0.00001
NM_022489.4(INF2):c.*289G>A rs755170084 0.00001
NM_022489.4(INF2):c.*358C>T rs1312922081 0.00001
NM_022489.4(INF2):c.*815C>T rs886050385 0.00001
NM_022489.4(INF2):c.1777G>A (p.Glu593Lys) rs775320095 0.00001
NM_022489.4(INF2):c.2389C>T (p.Arg797Cys) rs941477086 0.00001
NM_022489.4(INF2):c.2415G>A (p.Leu805=) rs779751728 0.00001
NM_022489.4(INF2):c.2701G>A (p.Ala901Thr) rs775349897 0.00001
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile) rs377414980 0.00001
NM_022489.4(INF2):c.3190T>C (p.Leu1064=) rs886050383 0.00001
NM_022489.4(INF2):c.986-14A>G rs774186716 0.00001
NM_004621.6(TRPC6):c.*1032A>G rs1858771912
NM_004621.6(TRPC6):c.*1147A>G rs1858769601
NM_004621.6(TRPC6):c.*1176T>C rs886047535
NM_004621.6(TRPC6):c.*1349T>C rs180930016
NM_004621.6(TRPC6):c.*147T>C rs868215324
NM_004621.6(TRPC6):c.*293G>C rs1858789155
NM_004621.6(TRPC6):c.*507T>A rs202210629
NM_004621.6(TRPC6):c.*820C>T rs1858777078
NM_004621.6(TRPC6):c.*821C>T rs886047536
NM_004621.6(TRPC6):c.*960G>C rs138558920
NM_004621.6(TRPC6):c.-244T>C rs200535998
NM_004621.6(TRPC6):c.-264C>G rs1199336137
NM_004621.6(TRPC6):c.-317C>G rs886047540
NM_004621.6(TRPC6):c.-344C>G rs867713895
NM_004621.6(TRPC6):c.-360T>C rs192759166
NM_004621.6(TRPC6):c.-424G>T rs17096920
NM_004621.6(TRPC6):c.114G>A (p.Leu38=) rs374371372
NM_004621.6(TRPC6):c.1344C>A (p.Ala448=) rs554849365
NM_004621.6(TRPC6):c.1886G>C (p.Arg629Thr) rs775034304
NM_004621.6(TRPC6):c.1886_1887insC (p.Arg629fs) rs780501413
NM_004621.6(TRPC6):c.2205+9T>G rs190441617
NM_004621.6(TRPC6):c.2304G>T (p.Pro768=) rs201608841
NM_004621.6(TRPC6):c.272G>T (p.Arg91Leu) rs770014593
NM_022489.4(INF2):c.*187C>T rs1056002023
NM_022489.4(INF2):c.*396G>T rs1890456253
NM_022489.4(INF2):c.*503C>T rs1890461695
NM_022489.4(INF2):c.-50G>A rs886050379
NM_022489.4(INF2):c.-88G>C rs551124491
NM_022489.4(INF2):c.1103A>G (p.Gln368Arg) rs1481694989
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser) rs376942822
NM_022489.4(INF2):c.1575C>T (p.Thr525=) rs1417311904
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.2709G>C (p.Gln903His) rs762803590
NM_022489.4(INF2):c.3361C>G (p.Pro1121Ala) rs1248997686
NM_022489.4(INF2):c.3446G>C (p.Ser1149Thr) rs1890205619
NM_022489.4(INF2):c.459C>G (p.Tyr153Ter) rs754706068
NM_022489.4(INF2):c.625G>A (p.Glu209Lys) rs1012899025

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