ClinVar Miner

List of variants in gene COL18A1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
COL18A1, 2-BP DEL rs398122391 0.00029
NM_001379500.1(COL18A1):c.929-2A>G rs765919785 0.00003
NM_001379500.1(COL18A1):c.107-12162G>A rs749957649 0.00002
NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs) rs768663340 0.00001
NM_001379500.1(COL18A1):c.1459C>T (p.Arg487Ter) rs768055690 0.00001
NM_001379500.1(COL18A1):c.2666_2667insT (p.Gly892fs) rs1568930288 0.00001
NM_001379500.1(COL18A1):c.394del (p.His132fs) rs1568893029 0.00001
COL18A1, 2-BP DEL, 3617CT
NC_000021.9:g.45490838del rs2036312031
NM_001379500.1(COL18A1):c.1070del (p.Pro357fs) rs1555860555
NM_001379500.1(COL18A1):c.1070dup (p.Gly358fs) rs1555860555
NM_001379500.1(COL18A1):c.1080_1081dup (p.Cys361fs)
NM_001379500.1(COL18A1):c.1110C>A (p.Cys370Ter)
NM_001379500.1(COL18A1):c.1147C>T (p.Gln383Ter)
NM_001379500.1(COL18A1):c.1158del (p.Gly387fs) rs1438060081
NM_001379500.1(COL18A1):c.1203del (p.Gly402fs)
NM_001379500.1(COL18A1):c.1264C>T (p.Gln422Ter)
NM_001379500.1(COL18A1):c.1274_1283del (p.Pro425fs) rs776238441
NM_001379500.1(COL18A1):c.1467_1470del (p.Phe489fs)
NM_001379500.1(COL18A1):c.1488del (p.Gly497fs) rs2145937523
NM_001379500.1(COL18A1):c.1593del (p.Pro534fs) rs778909108
NM_001379500.1(COL18A1):c.1718_1719dup (p.Gly574fs)
NM_001379500.1(COL18A1):c.1765G>T (p.Gly589Ter)
NM_001379500.1(COL18A1):c.1790dup (p.Gly598fs) rs1230407213
NM_001379500.1(COL18A1):c.1857dup (p.Pro620fs)
NM_001379500.1(COL18A1):c.1924-2_1924del rs2145974543
NM_001379500.1(COL18A1):c.1954del (p.Ala652fs)
NM_001379500.1(COL18A1):c.2056del (p.Arg686fs) rs886043809
NM_001379500.1(COL18A1):c.2102dup (p.Leu702fs) rs2145984908
NM_001379500.1(COL18A1):c.2111del (p.Gly704fs) rs1834684241
NM_001379500.1(COL18A1):c.2117_2118insG (p.Gly707fs)
NM_001379500.1(COL18A1):c.2118_2119dup (p.Gly707fs)
NM_001379500.1(COL18A1):c.2118del (p.Gly707fs) rs775168204
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs) rs775168204
NM_001379500.1(COL18A1):c.2193del (p.Pro732fs)
NM_001379500.1(COL18A1):c.2257C>T (p.Arg753Ter) rs1280809356
NM_001379500.1(COL18A1):c.2273_2277del (p.Pro758fs)
NM_001379500.1(COL18A1):c.2324_2327del (p.Ala775fs)
NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter) rs1555870809
NM_001379500.1(COL18A1):c.2482_2483del (p.Asp828fs) rs2036496173
NM_001379500.1(COL18A1):c.2518_2521dup (p.Pro841fs)
NM_001379500.1(COL18A1):c.2525del (p.Pro842fs) rs2146009153
NM_001379500.1(COL18A1):c.2553del (p.Thr853fs)
NM_001379500.1(COL18A1):c.2558dup (p.Pro854fs) rs760707447
NM_001379500.1(COL18A1):c.2577+1G>A
NM_001379500.1(COL18A1):c.2669_2670insT (p.Gly892fs) rs2146015551
NM_001379500.1(COL18A1):c.2673del (p.Gly892fs) rs749009747
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs) rs749009747
NM_001379500.1(COL18A1):c.268del (p.Arg90fs) rs2035293928
NM_001379500.1(COL18A1):c.367del (p.Gly122_Val123insTer) rs2145890527
NM_001379500.1(COL18A1):c.429dup (p.Ala144fs) rs1602456821
NM_001379500.1(COL18A1):c.481C>T (p.Gln161Ter) rs2145890906
NM_001379500.1(COL18A1):c.512del (p.Gly171fs) rs2145891005
NM_001379500.1(COL18A1):c.589del (p.Leu197fs) rs2035305918
NM_001379500.1(COL18A1):c.650_651del (p.Gln217fs) rs2035308819
NM_001379500.1(COL18A1):c.688dup (p.Gln230fs) rs756223600
NM_001379500.1(COL18A1):c.837dup (p.Val280fs) rs760175310
NM_001379500.1(COL18A1):c.892G>T (p.Glu298Ter) rs2145919390
NM_001379500.1(COL18A1):c.941del (p.Pro314fs)
NM_001379500.1(COL18A1):c.966G>A (p.Trp322Ter) rs2035717418
NM_001379500.1(COL18A1):c.992dup (p.Arg332fs) rs2035718735
NM_030582.3(COL18A1):c.2818_2819del rs2036430129

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.