ClinVar Miner

List of variants reported as uncertain significance for rectal disorder

Included ClinVar conditions (11):

Corpus callosum, agenesis of; Imperforate anus; Global developmental delay; Abnormal facial shape; Broad thumb; Intellectual disability
Imperforate anus
Imperforate anus; Abnormality of the vertebral column; Ventricular septal defect
Imperforate anus; Atrial septal defect; Psoriasiform dermatitis; 2-3 toe syndactyly; Abnormal facial shape; Delayed speech and language development; Single umbilical artery; Arthritis; Intellectual disability, moderate; Delayed skeletal maturation; Vertebral fusion; Coronary artery atherosclerosis; Peripheral pulmonary artery stenosis; Absent/hypoplastic coccyx; Ventricular septal defect
Imperforate anus; Global developmental delay; Absent speech; Microcephaly; Teratoma
Imperforate anus; Patent foramen ovale; Abnormality of the vertebral column; Penile hypospadias; Urethral stricture
Imperforate anus; Renal dysplasia
Imperforate anus; Short stature; Ectopic posterior pituitary; Central hypothyroidism; Hypopituitarism; Abnormal growth hormone level
Migraine; Atrial septal defect, ostium secundum type; Rectal prolapse; Stress urinary incontinence; Bicuspid aortic valve
Rectal neoplasm
Rectum adenocarcinoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002941.4(ROBO1):c.1400C>T (p.Ala467Val)	rs781271571	0.00003
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)	rs756859993	0.00002
NM_000038.6(APC):c.811A>G (p.Met271Val)	rs587781464	0.00001
GRCh37/hg19 15q12(chr15:27462869-27544157)
GRCh37/hg19 2q12.1(chr2:103090517-103148433)
GRCh37/hg19 7q34(chr7:139478979-139550968)
NM_000038.6(APC):c.3160C>T (p.His1054Tyr)	rs1195583636
NM_000038.6(APC):c.6152A>G (p.Lys2051Arg)	rs1554087256
NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)
NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)

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