ClinVar Miner

List of variants reported as uncertain significance by Paediatric Orthopaedics Research Lab, Christian Medical College

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp) rs1584322496
NM_000089.4(COL1A2):c.2026-1_2042dup rs1584325529
NM_000089.4(COL1A2):c.2434C>T (p.Pro812Ser) rs1584327886
NM_000089.4(COL1A2):c.757G>C (p.Gly253Arg) rs1584318623
NM_000393.5(COL5A2):c.4174C>A (p.Leu1392Ile) rs748999143
NM_001854.4(COL11A1):c.3619G>A (p.Gly1207Ser) rs1234981157
NM_002615.7(SERPINF1):c.742_747del (p.Lys248_Ala249del) rs1597355459
NM_002615.7(SERPINF1):c.868GAG[1] (p.Glu291del) rs759097183
NM_005430.4(WNT1):c.501G>C (p.Trp167Cys) rs1592257435
NM_006129.5(BMP1):c.1215C>G (p.Ile405Met) rs1586459952
NM_006129.5(BMP1):c.916A>C (p.Ser306Arg) rs1357950133
NM_021939.4(FKBP10):c.773T>G (p.Leu258Arg) rs1597907453

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.