ClinVar Miner

List of variants studied for Metaphyseal chondrodysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002427.4(MMP13):c.1080T>C (p.Tyr360=) rs61737008 0.00951
NM_002427.4(MMP13):c.1384G>A (p.Val462Ile) rs781966264 0.00009
NM_002427.4(MMP13):c.325C>T (p.Arg109Ter) rs369083541 0.00003
NM_002427.4(MMP13):c.272T>C (p.Met91Thr) rs121909499
NM_002427.4(MMP13):c.893G>A (p.Gly298Glu)
NM_002427.4(MMP13):c.917+2T>A

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