ClinVar Miner

List of variants in gene ADAMTSL2 reported as likely benign for acromelic dysplasia

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.24762
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12851
NM_014694.4(ADAMTSL2):c.1230C>T (p.Ala410=) rs369962641 0.01009
NM_014694.4(ADAMTSL2):c.387G>A (p.Thr129=) rs146802900 0.00185
NM_014694.4(ADAMTSL2):c.279G>A (p.Thr93=) rs62637570 0.00150
NM_014694.4(ADAMTSL2):c.310-10C>T rs571169702 0.00005
NM_014694.4(ADAMTSL2):c.-212dup rs539826426

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.