List of variants in gene COL1A1 reported as likely pathogenic by Ambry 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1299+5G>A	rs193922139
NM_000088.4(COL1A1):c.3118G>C (p.Gly1040Arg)
NM_000088.4(COL1A1):c.3371G>A (p.Gly1124Asp)	rs2509170044
NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys)	rs72656332
NM_000088.4(COL1A1):c.388G>T (p.Gly130Cys)	rs1555575085
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)	rs1114167408
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser)	rs72667037

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