ClinVar Miner

List of variants reported as not provided for not provided by Department of Ophthalmology and Visual Sciences Kyoto University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017918.5(MCUB):c.451+4929G>T rs4698775 0.77452
NC_000006.12:g.30806580G>A rs3130783 0.74116
NC_000006.12:g.43858890C>T rs943080 0.60993
NR_038264.1(ADAMTS9-AS2):n.469+34351C>T rs6795735 0.57743
NC_000015.10:g.58396268C>G rs920915 0.54639
NM_133510.4(RAD51B):c.853+26380G>A rs8017304 0.53572
NM_000493.4(COL10A1):c.155-611A>T rs3812111 0.47618
NR_033928.1(TNFRSF10A-DT):n.238G>T rs13278062 0.41453
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_194318.4(B3GLCT):c.271-1835T>C rs9542236 0.34696
NC_000016.10:g.56959412C>A rs3764261 0.31123
NM_004612.4(TGFBR1):c.1131-402T>G rs334353 0.25274
NM_013356.3(SLC16A8):c.1198+571G>A rs8135665 0.24393
NM_001099667.3(ARMS2):c.297+881C>T rs3750847 0.23032
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_001645.3(APOC1):c.*459A>G rs4420638 0.18374
NM_006929.5(SKIC2):c.1212-29G>A rs429608 0.16239
NM_000064.4(C3):c.3811-73C>G rs2241394 0.10517
NM_004771.4(MMP20):c.954-4768T>C rs10895322 0.09474
NM_020351.4(COL8A1):c.-4+17674G>T rs13081855 0.07978
NM_002775.5(HTRA1):c.472+4990G>T rs2284665

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.