ClinVar Miner

List of variants in gene MMP13 reported as uncertain significance for Metaphyseal chondrodysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002427.4(MMP13):c.1384G>A (p.Val462Ile)	rs781966264	0.00009
NM_002427.4(MMP13):c.893G>A (p.Gly298Glu)
NM_002427.4(MMP13):c.917+2T>A

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