ClinVar Miner

List of variants reported as pathogenic for Spondyloepimetaphyseal dysplasia with multiple dislocations by Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln)	rs193922922

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