List of variants in gene COL5A2 reported as likely benign by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.370-16C>T	rs148220961	0.00748
NM_000393.5(COL5A2):c.2554-14A>G	rs142429770	0.00703
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)	rs62184175	0.00525
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)	rs76511879	0.00306
NM_000393.5(COL5A2):c.2032-7G>A	rs141571092	0.00265
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)	rs148430780	0.00245
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)	rs146100075	0.00235
NM_000393.5(COL5A2):c.1618-19C>G	rs189970491	0.00148
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)	rs139229616	0.00120
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)	rs145850743	0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)	rs142044596	0.00108
NM_000393.5(COL5A2):c.3364-17C>T	rs201720941	0.00070
NM_000393.5(COL5A2):c.3471+8A>T	rs367643805	0.00061
NM_000393.5(COL5A2):c.322+8T>C	rs372227642	0.00026
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)	rs148229627	0.00018
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)	rs527433112	0.00007
NM_000393.5(COL5A2):c.567+17G>T	rs780672109	0.00006
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)	rs745845130	0.00004
NM_000393.5(COL5A2):c.1923+11A>G	rs368776400	0.00003
NM_000393.5(COL5A2):c.2554-5T>C	rs373495598	0.00001
NM_000393.5(COL5A2):c.150C>T (p.Asn50=)	rs1559108847
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val)	rs140109751

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.