List of variants in gene COL1A2 reported as likely pathogenic for Osteogenesis imperfecta type III

Minimum submission review status:		Collection method:
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)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.1235G>T (p.Gly412Val)	rs1554396283
NM_000089.4(COL1A2):c.1631G>C (p.Gly544Ala)	rs72658135
NM_000089.4(COL1A2):c.2010_2013delinsG (p.Arg671del)
NM_000089.4(COL1A2):c.2161G>T (p.Gly721Cys)	rs72658169
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)	rs72658185
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)	rs1562906013
NM_000089.4(COL1A2):c.2854G>A (p.Gly952Ser)
NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser)

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