ClinVar Miner

List of variants in gene MMP13 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: 40
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HGVS dbSNP gnomAD frequency
NM_002427.4(MMP13):c.*160G>A rs17860583 0.00098
NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys) rs142064825 0.00071
NM_002427.4(MMP13):c.1315+15T>C rs373735518 0.00053
NM_002427.4(MMP13):c.438C>T (p.Ser146=) rs17860530 0.00037
NM_002427.4(MMP13):c.509A>C (p.Lys170Thr) rs145243532 0.00033
NM_002427.4(MMP13):c.968C>T (p.Thr323Met) rs185832993 0.00029
NM_002427.4(MMP13):c.*264C>T rs555759372 0.00028
NM_002427.4(MMP13):c.935A>G (p.His312Arg) rs142601143 0.00021
NM_002427.4(MMP13):c.951T>G (p.Asp317Glu) rs367612153 0.00013
NM_002427.4(MMP13):c.756T>C (p.Phe252=) rs372000933 0.00011
NM_002427.4(MMP13):c.*13A>T rs372513971 0.00006
NM_002427.4(MMP13):c.*852C>T rs532528718 0.00006
NM_002427.4(MMP13):c.1415_1416del (p.Ter472CysextTer?) rs781838470 0.00006
NM_002427.4(MMP13):c.652C>G (p.Leu218Val) rs782177947 0.00006
NM_002427.4(MMP13):c.*1171C>A rs1184489201 0.00004
NM_002427.4(MMP13):c.997C>T (p.Arg333Cys) rs782152104 0.00004
NM_002427.4(MMP13):c.*156A>G rs544003228 0.00003
NM_002427.4(MMP13):c.*275T>C rs781825443 0.00003
NM_002427.4(MMP13):c.818C>G (p.Pro273Arg) rs781841656 0.00002
NM_002427.4(MMP13):c.*1219A>C rs188511209 0.00001
NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly) rs145425594 0.00001
NM_002427.4(MMP13):c.1101C>G (p.Pro367=) rs781949882 0.00001
NM_002427.4(MMP13):c.1315+12C>T rs781936267 0.00001
NM_002427.4(MMP13):c.710G>A (p.Gly237Glu) rs1555017407 0.00001
NM_002427.4(MMP13):c.*1007T>C rs886047551
NM_002427.4(MMP13):c.*1052T>C rs1860437707
NM_002427.4(MMP13):c.*1102T>C rs886047550
NM_002427.4(MMP13):c.*374_*376dup rs886047556
NM_002427.4(MMP13):c.*436G>C rs886047555
NM_002427.4(MMP13):c.*54T>C rs1860457399
NM_002427.4(MMP13):c.*723A>T rs1860443091
NM_002427.4(MMP13):c.*756A>G rs886047554
NM_002427.4(MMP13):c.*771T>G rs886047553
NM_002427.4(MMP13):c.*849dup rs886047552
NM_002427.4(MMP13):c.*954G>C rs1860439605
NM_002427.4(MMP13):c.1123C>T (p.Leu375Phe) rs886047557
NM_002427.4(MMP13):c.1316-15T>C rs1860462715
NM_002427.4(MMP13):c.492G>C (p.Met164Ile) rs1860664851
NM_002427.4(MMP13):c.686G>T (p.Gly229Val) rs782723542
NM_002427.4(MMP13):c.706C>T (p.Pro236Ser) rs782443296

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