List of variants in gene ADAMTS17 reported as likely benign for Weill-Marchesani syndrome

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)
		ClinVar version:

Total variants: 34

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_139057.4(ADAMTS17):c.*474C>T	rs117821788	0.01156
NM_139057.4(ADAMTS17):c.*1946G>T	rs77749500	0.00956
NM_139057.4(ADAMTS17):c.*420G>A	rs556966662	0.00622
NM_139057.4(ADAMTS17):c.*1234G>A	rs543905312	0.00574
NM_139057.4(ADAMTS17):c.*880C>T	rs187416809	0.00515
NM_139057.4(ADAMTS17):c.*1315C>T	rs185582795	0.00381
NM_139057.4(ADAMTS17):c.*1244C>G	rs561561821	0.00329
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=)	rs117133620	0.00307
NM_139057.4(ADAMTS17):c.*1546G>A	rs149694490	0.00273
NM_139057.4(ADAMTS17):c.3128-12C>T	rs182634994	0.00220
NM_139057.4(ADAMTS17):c.*1653C>G	rs536677830	0.00181
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=)	rs148939974	0.00176
NM_139057.4(ADAMTS17):c.*2313T>C	rs562633764	0.00161
NM_139057.4(ADAMTS17):c.*960G>A	rs180868548	0.00101
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)	rs143891379	0.00100
NM_139057.4(ADAMTS17):c.-9C>T	rs192272127	0.00067
NM_139057.4(ADAMTS17):c.*2747T>G	rs183457005	0.00066
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=)	rs143896591	0.00033
NM_139057.4(ADAMTS17):c.*959C>T	rs141144986	0.00019
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala)	rs202099735	0.00016
NM_139057.4(ADAMTS17):c.3128-6C>T	rs148559983	0.00006
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu)	rs201586136	0.00004
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly)	rs886050980	0.00003
NM_139057.4(ADAMTS17):c.1873G>T (p.Ala625Ser)	rs756053197	0.00002
NM_139057.4(ADAMTS17):c.172_174del	rs137961566
NM_139057.4(ADAMTS17):c.*19G>A	rs201992797
NM_139057.4(ADAMTS17):c.*2157AG[1]	rs144918924
NM_139057.4(ADAMTS17):c.*2228G>C	rs541793251
NM_139057.4(ADAMTS17):c.*2354C>G	rs8036076
NM_139057.4(ADAMTS17):c.*2605G>C	rs191759654
NM_139057.4(ADAMTS17):c.*2637C>G	rs529849561
NM_139057.4(ADAMTS17):c.*882G>T	rs2581358
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=)	rs559102316
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser)	rs770794109

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.