ClinVar Miner

List of variants studied for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 by Fulgent Genetics,Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842

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.