ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00019
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127 0.00003
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130 0.00001
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926 0.00001
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg) rs773321546 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064

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.