ClinVar Miner

List of variants in gene CUL9 reported as uncertain significance for 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)	rs139758390	0.00005
NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)	rs749988405	0.00001

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