ClinVar Miner

List of variants studied for Autism spectrum disorder by Department of Medical Genetics, Capital Institute of Pediatrics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001039469.3(MARK2):c.1101+1G>A
NM_001039469.3(MARK2):c.1120del (p.Thr374fs) rs1554985733
NM_001039469.3(MARK2):c.1181dup (p.Val395fs)
NM_001039469.3(MARK2):c.1514+2T>G
NM_001039469.3(MARK2):c.1516dup (p.Leu506fs)
NM_001039469.3(MARK2):c.1750C>T (p.Arg584Ter)
NM_001039469.3(MARK2):c.1769del (p.Gly590fs)
NM_001039469.3(MARK2):c.1888dup (p.Ala630fs)
NM_001039469.3(MARK2):c.1934+1G>A
NM_001039469.3(MARK2):c.1939_1940del (p.Leu647fs)
NM_001039469.3(MARK2):c.1990C>T (p.Arg664Ter)
NM_001039469.3(MARK2):c.211C>T (p.Arg71Ter)
NM_001039469.3(MARK2):c.2168_2169del (p.Cys723fs)
NM_001039469.3(MARK2):c.2239C>T (p.Gln747Ter)
NM_001039469.3(MARK2):c.2255T>C (p.Val752Ala)
NM_001039469.3(MARK2):c.2291G>C (p.Arg764Pro)
NM_001039469.3(MARK2):c.235-2A>G
NM_001039469.3(MARK2):c.239C>T (p.Ala80Val)
NM_001039469.3(MARK2):c.258_259dup (p.Thr87fs)
NM_001039469.3(MARK2):c.288dup (p.Leu97fs)
NM_001039469.3(MARK2):c.337+1G>T
NM_001039469.3(MARK2):c.403G>A (p.Gly135Arg)
NM_001039469.3(MARK2):c.581T>C (p.Phe194Ser) rs1940729976
NM_001039469.3(MARK2):c.757C>T (p.Gln253Ter)
NM_001039469.3(MARK2):c.812del (p.Phe271fs)
NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter) rs1468332923
NM_001039469.3(MARK2):c.905G>A (p.Arg302Gln)
NM_001039469.3(MARK2):c.989-1G>A

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.