List of variants in gene COL1A2 reported as likely pathogenic for Osteogenesis imperfecta with normal sclerae, dominant form

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NC_000007.13:g.[94023928_94036950del;94039083_94045769dup]
NM_000089.4(COL1A2):c.1171G>C (p.Gly391Arg)	rs67707918
NM_000089.4(COL1A2):c.1504-2A>G
NM_000089.4(COL1A2):c.1657G>T (p.Gly553Cys)
NM_000089.4(COL1A2):c.2306G>T (p.Gly769Val)	rs72658184
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)	rs1562906013
NM_000089.4(COL1A2):c.2621G>C (p.Gly874Ala)	rs2115946490
NM_000089.4(COL1A2):c.2629G>A (p.Gly877Ser)	rs72658201
NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys)	rs72659306
NM_000089.4(COL1A2):c.3159G>A (p.Arg1053=)
NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr)
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)	rs2115962248
NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp)	rs1791793398
NM_000089.4(COL1A2):c.752C>T (p.Ser251Phe)	rs1387151592
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)	rs1554395970
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)	rs906553840
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)	rs72656394

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