ClinVar Miner

List of variants reported as pathogenic for Schmid metaphyseal chondrodysplasia by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (1):

Metaphyseal chondrodysplasia, Schmid type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000493.4(COL10A1):c.1772G>T (p.Cys591Phe)	rs2114278741
NM_000493.4(COL10A1):c.1833G>A (p.Trp611Ter)
NM_000493.4(COL10A1):c.1853_1866del (p.Gly618fs)	rs2114277790

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