ClinVar Miner

List of variants reported as not provided for Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Legg-Calve-Perthes disease; Kniest dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia with metatarsal shortening; Spondyloepiphyseal dysplasia, Stanescu type by GenomeConnect - Invitae Patient Insights Network

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)	rs886043832	0.00001

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