List of variants in gene COL1A1 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)	rs72653170	0.00001
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)	rs72656314	0.00001
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)	rs66494876
NM_000088.4(COL1A1):c.1696G>A (p.Gly566Arg)	rs67416837
NM_000088.4(COL1A1):c.1720del (p.Arg574fs)	rs1555573621
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser)	rs68114505
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)	rs67368147
NM_000088.4(COL1A1):c.2128-1G>C	rs67543897
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser)	rs67445413
NM_000088.4(COL1A1):c.2740_2741insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly914fs)	rs2144550352
NM_000088.4(COL1A1):c.2829+1G>A	rs72653156
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val)	rs67771061
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	rs72653173
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)	rs72653178
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)	rs67815019
NM_000088.4(COL1A1):c.3925C>T (p.Gln1309Ter)	rs2144534607

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