ClinVar Miner

List of variants reported as pathogenic for intellectual developmental disorder, autosomal recessive 74 by OMIM

Included ClinVar conditions (2):

Intellectual developmental disorder, autosomal recessive 74
Intellectual developmental disorder, autosomal recessive 74; Cortical dysplasia, complex, with other brain malformations 10

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005883.3(APC2):c.1063G>A (p.Val355Ile)	rs751785909	0.00005
NM_005883.3(APC2):c.5199dup (p.Lys1734fs)	rs886040957
NM_005883.3(APC2):c.6620C>T (p.Pro2207Leu)	rs1338563418

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.