ClinVar Miner

List of variants in gene MMP9 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) rs144098289 0.00191
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) rs41529445 0.00151
NM_004994.3(MMP9):c.464C>T (p.Thr155Ile) rs143024943 0.00053
NM_004994.3(MMP9):c.1414C>T (p.Pro472Ser) rs148151404 0.00018
NM_004994.3(MMP9):c.878T>A (p.Ile293Asn) rs201975453 0.00018
NM_004994.3(MMP9):c.906C>A (p.Cys302Ter) rs146499495 0.00011
NM_004994.3(MMP9):c.2T>A (p.Met1Lys) rs121434556 0.00010
NM_004994.3(MMP9):c.344A>G (p.Lys115Arg) rs202158739 0.00009
NM_004994.3(MMP9):c.820G>A (p.Glu274Lys) rs367601348 0.00005
NM_004994.3(MMP9):c.139-5C>T rs200040822 0.00004
NM_004994.3(MMP9):c.1404C>T (p.Cys468=) rs763688228 0.00003
NM_004994.3(MMP9):c.206C>T (p.Pro69Leu) rs1489372682 0.00003
NM_004994.3(MMP9):c.81C>T (p.Thr27=) rs45592943 0.00003
NM_004994.3(MMP9):c.521-15G>C rs200292673 0.00002
NM_004994.3(MMP9):c.80C>T (p.Thr27Ile) rs201841087 0.00002
NM_004994.3(MMP9):c.1174+14C>T rs886056715 0.00001
NM_004994.3(MMP9):c.1394C>T (p.Pro465Leu) rs774999010 0.00001
NM_004994.3(MMP9):c.1532C>T (p.Pro511Leu) rs1055327031 0.00001
NM_004994.3(MMP9):c.458C>A (p.Pro153Gln) rs753889026 0.00001
NM_004994.3(MMP9):c.916G>T (p.Gly306Cys) rs201344509 0.00001
NM_004994.3(MMP9):c.979G>C (p.Gly327Arg) rs199569524 0.00001
NM_004994.3(MMP9):c.1222G>A (p.Gly408Ser) rs2145454351
NM_004994.3(MMP9):c.1284dup (p.Pro429fs) rs769764616
NM_004994.3(MMP9):c.259G>A (p.Asp87Asn) rs2084264785
NM_004994.3(MMP9):c.451G>A (p.Val151Met) rs753159137
NM_004994.3(MMP9):c.58G>A (p.Ala20Thr) rs886056714
NM_004994.3(MMP9):c.782A>G (p.Asn261Ser) rs144229833
NM_004994.3(MMP9):c.823+2_823+7del rs762254377
NM_004994.3(MMP9):c.831C>A (p.Tyr277Ter)

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.