List of variants in gene COL1A1 reported as likely pathogenic for Osteogenesis imperfecta, recessive perinatal lethal

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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
NM_000088.4(COL1A1):c.1004G>A (p.Gly335Asp)	rs1907549643
NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val)	rs1555574249
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)	rs66494876
NM_000088.4(COL1A1):c.1200+1del	rs2144576696
NM_000088.4(COL1A1):c.1292G>T (p.Gly431Val)	rs72648332
NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg)	rs2144573313
NM_000088.4(COL1A1):c.1867G>A (p.Gly623Ser)	rs2144564489
NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser)	rs1404470949
NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser)	rs1907108266
NM_000088.4(COL1A1):c.2192G>A (p.Gly731Asp)
NM_000088.4(COL1A1):c.2336G>T (p.Gly779Val)	rs2144556146
NM_000088.4(COL1A1):c.3207+1_3207+2del	rs1064796200
NM_000088.4(COL1A1):c.3261+1G>A	rs2144543339
NM_000088.4(COL1A1):c.3316G>T (p.Gly1106Cys)	rs2144542487
NM_000088.4(COL1A1):c.3434G>T (p.Gly1145Val)
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)	rs72645355

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