ClinVar Miner

List of variants reported as likely pathogenic for Wilms tumor 1 by Invitae

Included ClinVar conditions (11):

Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome
Beckwith-Wiedemann syndrome; Wilms tumor 1; Silver-Russell syndrome 1; Silver-Russell syndrome 3
Drash syndrome; Frasier syndrome; Nephrotic syndrome, type 4; Wilms tumor 1
Drash syndrome; Frasier syndrome; Wilms tumor 1
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Tracheoesophageal fistula
Keipert syndrome; Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_024426.6(WT1):c.965+1G>A	rs771527206	0.00001
NC_000023.10:g.(?_132887489)_(132888223_?)dup
NC_000023.10:g.(?_132887499)_(132888213_?)dup
NM_004484.4(GPC3):c.1292+2T>A	rs2071072322
NM_004484.4(GPC3):c.1413+2T>A	rs2124401750
NM_004484.4(GPC3):c.1666G>C (p.Gly556Arg)	rs267606850
NM_004484.4(GPC3):c.337+2T>A
NM_024426.6(WT1):c.1016+1G>A	rs2133032244
NM_024426.6(WT1):c.1016+2T>G	rs1852674417
NM_024426.6(WT1):c.1114-1G>T	rs1851976798
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)	rs121907905
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)	rs121907902
NM_024426.6(WT1):c.1447+2T>C	rs1851829439
NM_024426.6(WT1):c.512G>T (p.Gly171Val)	rs1554946480
NM_024426.6(WT1):c.965+2T>C

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