List of variants in gene COL1A2 reported as uncertain significance for Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Osteoporosis; Ehlers-danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)	rs201168934	0.00006
NM_000089.4(COL1A2):c.286A>G (p.Met96Val)	rs763509640	0.00004
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	rs779303344
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)	rs1792298693

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