ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.1764+1G>T	rs72658140
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)	rs1792043985
NM_000089.4(COL1A2):c.433-2A>G	rs1554395471

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