List of variants in gene COL1A1 reported as pathogenic by Institute of Human Genetics, Cologne University

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: 6

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HGVS	dbSNP	gnomAD frequency
NC_000017.11:g.50188580_50188616del	rs1567754589
NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val)	rs1598293646
NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter)	rs72651648
NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser)	rs765659555
NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter)	rs2144547622
NM_000088.4(COL1A1):c.3270del (p.Gly1091fs)	rs1555572125

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