List of variants in gene COL1A1 reported as pathogenic for combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

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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: 24

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)	rs72654799	0.00009
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser)	rs66664580	0.00001
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)	rs72651642	0.00001
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser)	rs72651658	0.00001
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	rs72648326
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser)	rs72648330
NM_000088.4(COL1A1):c.1444G>A (p.Gly482Arg)	rs72648344
NM_000088.4(COL1A1):c.1646del (p.Pro549fs)	rs1907351704
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	rs1351742344
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)	rs72651645
NM_000088.4(COL1A1):c.2343+1G>A	rs1114167378
NM_000088.4(COL1A1):c.2597del (p.Gly866fs)
NM_000088.4(COL1A1):c.288del (p.Asp97fs)	rs2144593759
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala)	rs67771061
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	rs72653173
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])	rs74315111
NM_000088.4(COL1A1):c.3207+1G>A	rs1555572239
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)	rs67394386
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)	rs1555571916
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser)	rs72656330
NM_000088.4(COL1A1):c.4006-1G>A
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)	rs1114167408
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)	rs67828806
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	rs72645347

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