ClinVar Miner

Variants studied for Focal segmental glomerulosclerosis

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
10 12 94 59 89 263

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CD2AP 0 0 28 8 3 39
NPHS1 1 2 14 14 6 37
ACTN4 0 0 7 10 6 23
TRPC6 0 2 6 6 4 18
INF2 1 0 3 5 9 17
PLCE1 1 0 3 3 7 14
COL4A4 0 2 0 0 10 12
LAMB2 0 0 6 5 1 12
NPHS2 1 1 1 3 4 10
SMARCAL1 0 0 4 0 5 9
KIRREL2, NPHS1 0 0 3 1 2 6
COL4A3, MFF-DT 0 0 0 0 5 5
CFH 0 0 1 0 3 4
COQ2, LOC112997540 0 1 0 2 1 4
LMX1B 0 0 0 1 3 4
MYH9 0 0 1 1 2 4
MYO9A 0 0 4 0 0 4
APOL1 3 0 0 0 0 3
AXDND1, NPHS2 1 0 1 0 1 3
C2, CFB 0 0 0 0 3 3
SCARB2 0 0 1 0 2 3
WT1 1 0 2 0 0 3
C3 0 0 0 0 2 2
COL4A5 1 0 0 0 1 2
NLRP3 0 0 0 0 2 2
NOC3L, PLCE1 0 0 1 0 1 2
PDSS2 0 0 2 0 0 2
SDCCAG8 0 2 0 0 0 2
ALG13 0 0 1 0 0 1
ARHGAP24 0 0 1 0 0 1
CFI 0 0 0 0 1 1
COQ8B 0 0 1 0 0 1
EYA1 0 1 0 0 0 1
LOC107982234, WT1 0 0 0 0 1 1
NPHP1 0 0 0 0 1 1
NPHP3, NPHP3-ACAD11 0 0 0 0 1 1
NPHP4 0 0 0 0 1 1
NUP93 0 1 0 0 0 1
NXF5 0 0 1 0 0 1
REG1A 0 0 1 0 0 1
RPGRIP1L 0 0 0 0 1 1
SLC17A5 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome Diagnostics Laboratory, The Hospital for Sick Children 3 7 49 53 85 197
Illumina Laboratory Services, Illumina 0 0 28 6 4 38
Yale Center for Mendelian Genomics, Yale University 3 2 4 0 0 9
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 8 0 0 9
NIHR Bioresource Rare Diseases, University of Cambridge 3 2 0 0 0 5
OMIM 0 0 2 0 0 2
Blueprint Genetics 0 0 2 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 1 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Renal Department, Renmin Hospital of Wuhan University 0 1 0 0 0 1

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