ClinVar Miner

List of variants in gene MMP13 reported as benign for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002427.4(MMP13):c.*885A>G rs1042840 0.25591
NM_002427.4(MMP13):c.799+8G>A rs3819089 0.15782
NM_002427.4(MMP13):c.800-9C>T rs17860556 0.03114
NM_002427.4(MMP13):c.*314T>C rs17860584 0.03109
NM_002427.4(MMP13):c.799+7C>T rs72987505 0.00298
NM_002427.4(MMP13):c.741C>T (p.Thr247=) rs782086012 0.00004
NM_002427.4(MMP13):c.*997dup rs35477433

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