ClinVar Miner

List of variants in gene COL9A3 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.1288-5T>C rs741758 0.38028
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) rs751557 0.25404
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984 0.12823
NM_001853.4(COL9A3):c.93C>A (p.Pro31=) rs2273078 0.11502
NM_001853.4(COL9A3):c.129C>T (p.Pro43=) rs2273079 0.06051
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651 0.04577
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_001853.4(COL9A3):c.901-9T>C rs74506912 0.00695
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483 0.00231
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr) rs116005499 0.00180
NM_001853.4(COL9A3):c.468C>T (p.Pro156=) rs137979802 0.00169
NM_001853.4(COL9A3):c.891C>T (p.Ser297=) rs142412708 0.00116
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761 0.00088
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_001853.4(COL9A3):c.255+8C>T rs141737082 0.00082
NM_001853.4(COL9A3):c.333G>A (p.Pro111=) rs149690829 0.00025
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=) rs776395616 0.00003
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser) rs774823793 0.00002
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=) rs776017580 0.00001
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=) rs372602506 0.00001
NM_001853.4(COL9A3):c.72G>A (p.Gly24=) rs777240987 0.00001
NM_001853.4(COL9A3):c.113G>C (p.Gly38Ala) rs886044333
NM_001853.4(COL9A3):c.291G>C (p.Lys97Asn) rs946967931
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2]) rs544133282

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.