List of variants in gene COL1A1 reported as likely pathogenic by GeneDx

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys)	rs72653177	0.00002
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)	rs918420911	0.00001
NM_000088.4(COL1A1):c.1002+3G>T	rs2144579715
NM_000088.4(COL1A1):c.1044del (p.Val349fs)	rs1598297666
NM_000088.4(COL1A1):c.1155+3_1155+6del	rs72648316
NM_000088.4(COL1A1):c.1547del (p.Pro516fs)	rs1555573734
NM_000088.4(COL1A1):c.1635_1643del (p.543SPG[1])	rs1064796341
NM_000088.4(COL1A1):c.2049_2050del (p.Glu684fs)	rs1555573111
NM_000088.4(COL1A1):c.2872C>T (p.Arg958Cys)
NM_000088.4(COL1A1):c.3099+1G>A	rs1555572316
NM_000088.4(COL1A1):c.334-9A>G	rs1567764387
NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys)	rs1555571849
NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly)	rs2144537008
NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val)	rs1114167402
NM_000088.4(COL1A1):c.3827T>A (p.Ile1276Asn)	rs1207643613
NM_000088.4(COL1A1):c.4245C>A (p.Cys1415Ter)	rs1555571589
NM_000088.4(COL1A1):c.441del (p.Gly148fs)	rs1473458290
NM_000088.4(COL1A1):c.578del (p.Pro193fs)	rs1598300304

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.