ClinVar Miner

List of variants studied for Wilms tumor by Donald Williams Parsons Laboratory, Baylor College of Medicine

Included ClinVar conditions (16):

Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome
Autosomal dominant nonsyndromic hearing loss 27; Wilms tumor 6; Fibromatosis, gingival, 5
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
Nephroblastoma
Wilms tumor 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 2
Wilms tumor 5
Wilms tumor 6

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003506.4(FZD6):c.346C>T (p.Arg116Ter)	rs769116796	0.00001
NM_001127208.3(TET2):c.4456T>C (p.Ser1486Pro)	rs1553918194
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)	rs587776850
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)	rs121913409
NM_001904.4(CTNNB1):c.770C>T (p.Thr257Ile)	rs1553630452
NM_005120.3(MED12):c.131G>A (p.Gly44Asp)	rs199469672
NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs)	rs1555913934
NM_024426.6(WT1):c.880_882del (p.Tyr294del)	rs1554945033
NM_152383.5(DIS3L2):c.2381_2382del (p.Arg794fs)	rs1553551874

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