List of variants in gene combination COL1A1, LOC126862586 reported as likely pathogenic for Osteogenesis imperfecta type I

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.698G>A (p.Gly233Glu)	rs2144584170
NM_000088.4(COL1A1):c.698G>C (p.Gly233Ala)
NM_000088.4(COL1A1):c.750+16_750+17insGCTGTTGGTGCTTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCATGTCTCCCTGTTCCCCAAACCAAAGGGACCCAGAGTGGCAAGAGAGCAGCCCGTTCACTAACACCTTTGTCCTGGGGTCTCCGTCTCTGATCTTAGAGTCCTGATCA	rs2509241757
NM_000088.4(COL1A1):c.805G>C (p.Gly269Arg)	rs72645328
NM_000088.4(COL1A1):c.806G>C (p.Gly269Ala)	rs72645329
NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp)	rs72645337
NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser)	rs72645340
NM_000088.4(COL1A1):c.904-1G>C	rs1907593112

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