List of variants reported as benign for Metaphyseal anadysplasia 2

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004994.3(MMP9):c.1821A>C (p.Gly607=)	rs13969	0.53502
NM_004994.3(MMP9):c.*3C>T	rs20544	0.43840
NM_004994.3(MMP9):c.1174+7G>A	rs3918256	0.43823
NM_004994.3(MMP9):c.836A>G (p.Gln279Arg)	rs17576	0.35912
NM_004994.3(MMP9):c.2003G>A (p.Arg668Gln)	rs17577	0.15237
NM_004994.3(MMP9):c.649+3G>T	rs2274755	0.14987
NM_004994.3(MMP9):c.2082G>A (p.Val694=)	rs13925	0.14320
NM_004994.3(MMP9):c.*146T>C	rs9509	0.11400
NM_004994.3(MMP9):c.997+5C>T	rs3918254	0.02618
NM_004994.3(MMP9):c.45C>T (p.Gly15=)	rs28763885	0.01208
NM_004994.3(MMP9):c.716G>A (p.Arg239His)	rs28763886	0.01207
NM_004994.3(MMP9):c.113A>G (p.Asn38Ser)	rs41427445	0.01103
NM_004994.3(MMP9):c.1331-11T>A	rs3918257	0.00765
NM_004994.3(MMP9):c.2022C>T (p.Cys674=)	rs1802909	0.00493
NM_004994.3(MMP9):c.559C>T (p.Leu187Phe)	rs55789927	0.00255
NM_004994.3(MMP9):c.840C>T (p.Asp280=)	rs45437897	0.00079
NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro)	rs2250889

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.