List of variants in gene COL1A1 reported as pathogenic by Baylor Genetics

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser)	rs66664580	0.00001
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)	rs67507747
NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser)	rs72651647
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	rs72653173
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)	rs67394386
NM_000088.4(COL1A1):c.3649del (p.Arg1217fs)	rs2144537122
NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter)	rs1203106659
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	rs72667022

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