List of variants studied for Weill-Marchesani syndrome by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr)	rs121434358	0.00021
NM_139057.4(ADAMTS17):c.1721+1G>A	rs749116256	0.00002
NM_030957.4(ADAMTS10):c.810+1G>A	rs387906266	0.00001
NM_000138.5(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del)	rs1555396783
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met)	rs137854856
NM_030957.4(ADAMTS10):c.1190+1G>A	rs431825170
NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp)	rs267606636
NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys)	rs267606637
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter)	rs121434357
NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter)	rs121434359
NM_139057.4(ADAMTS17):c.2456-1dup	rs387906291
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs)	rs1555501030
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter)	rs267606638
NM_139057.4(ADAMTS17):c.873+1G>T	rs1160509052

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.