List of variants in gene COL3A1 reported as benign 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: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)	rs1516446	0.99509
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)	rs1801184	0.27758
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)	rs1800255	0.21080
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)	rs7579903	0.15955
NM_000090.4(COL3A1):c.1815+18A>G	rs28413125	0.08030
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)	rs41272837	0.01840
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)	rs80302667	0.01481
NM_000090.4(COL3A1):c.3525+19del	rs138061246	0.01120
NM_000090.4(COL3A1):c.80-16C>T	rs28763875	0.00914
NM_000090.4(COL3A1):c.583-8C>T	rs10166835	0.00713
NM_000090.4(COL3A1):c.1816-19T>C	rs114299724	0.00647
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)	rs41263773	0.00608
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)	rs35795890	0.00513
NM_000090.4(COL3A1):c.2022+5T>C	rs41263765	0.00448
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)	rs41263751	0.00443
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)	rs35759441	0.00430
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)	rs41263757	0.00244
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)	rs112185887	0.00176
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)	rs2271683	0.00158
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)	rs111840783	0.00083
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)	rs34781844	0.00050
NM_000090.4(COL3A1):c.1977+9C>T	rs184223621	0.00021
NM_000090.4(COL3A1):c.3363+21G>C	rs376559659	0.00003
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)	rs1801183
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)	rs1801183

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.