ClinVar Miner

List of variants reported as likely pathogenic for Metaphyseal chondrodysplasia, Schmid type by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter)	rs765628474	0.00003
NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs)	rs1779066131

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