ClinVar Miner

List of variants studied for Knobloch syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) rs200484625 0.00148
NM_001379500.1(COL18A1):c.1292T>C (p.Val431Ala) rs201414473 0.00046
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001379500.1(COL18A1):c.3491C>T (p.Pro1164Leu) rs532834770 0.00009
NM_001379500.1(COL18A1):c.107-12513C>T rs375087150 0.00005
NM_001379500.1(COL18A1):c.1221G>A (p.Pro407=) rs368902481 0.00004
NC_000021.9:g.45405398C>T rs754075778 0.00002
NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs) rs768663340 0.00001
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) rs753824908 0.00001
NM_001379500.1(COL18A1):c.1274_1283del (p.Pro425fs) rs776238441
NM_001379500.1(COL18A1):c.2032-1G>A
NM_001379500.1(COL18A1):c.2577+1G>A
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs) rs749009747
NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg) rs767090801
NM_001379500.1(COL18A1):c.3013+3A>C rs770631950
NM_001379500.1(COL18A1):c.3044_3062del (p.Pro1015fs) rs1365450066
NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)
NM_001379500.1(COL18A1):c.688dup (p.Gln230fs) rs756223600
NM_001379500.1(COL18A1):c.799-6C>T
NM_001379500.1(COL18A1):c.845C>T (p.Thr282Met)

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.