ClinVar Miner

List of variants in gene COL11A1 reported as uncertain significance for Fibrochondrogenesis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_001854.3(COL11A1):c.*1239T>C rs886044969
NM_001854.3(COL11A1):c.*1488G>C rs886044968
NM_001854.3(COL11A1):c.*240A>G rs886044972
NM_001854.3(COL11A1):c.*628dupA rs532806397
NM_001854.3(COL11A1):c.*715A>G rs886044971
NM_001854.3(COL11A1):c.*953G>C rs886044970
NM_001854.3(COL11A1):c.-198_-195delAGAG rs886044981
NM_001854.3(COL11A1):c.-220T>C rs886044982
NM_001854.3(COL11A1):c.-231dupC rs886044983
NM_001854.3(COL11A1):c.-258C>A rs886044984
NM_001854.3(COL11A1):c.-75C>T rs886044980
NM_001854.3(COL11A1):c.107-12C>T rs200564243
NM_001854.3(COL11A1):c.1489-5C>A rs370997745
NM_001854.3(COL11A1):c.1792-12_1792-10dupATG rs71752747
NM_001854.3(COL11A1):c.1792-15_1792-10dupATGATG rs71752747
NM_001854.3(COL11A1):c.1896G>A (p.Met632Ile) rs199835797
NM_001854.3(COL11A1):c.1949C>G (p.Pro650Arg) rs199875795
NM_001854.3(COL11A1):c.2143-15T>C rs886044979
NM_001854.3(COL11A1):c.2322G>A (p.Lys774=) rs140608161
NM_001854.3(COL11A1):c.2655+3A>G rs886044978
NM_001854.3(COL11A1):c.318A>G (p.Lys106=) rs150668398
NM_001854.3(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769
NM_001854.3(COL11A1):c.3297G>C (p.Gly1099=) rs768553239
NM_001854.3(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018
NM_001854.3(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171
NM_001854.3(COL11A1):c.35G>C (p.Arg12Pro) rs767496065
NM_001854.3(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237
NM_001854.3(COL11A1):c.3817-14_3817-13dupTT rs34228277
NM_001854.3(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207
NM_001854.3(COL11A1):c.4303-13dupT rs35232764
NM_001854.3(COL11A1):c.4357-16dupT rs748850423
NM_001854.3(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784
NM_001854.3(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172
NM_001854.3(COL11A1):c.4719G>A (p.Ser1573=) rs3753842
NM_001854.3(COL11A1):c.4728G>T (p.Met1576Ile) rs886044974
NM_001854.3(COL11A1):c.4906A>G (p.Lys1636Glu) rs886044973
NM_001854.3(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.3(COL11A1):c.628A>G (p.Ile210Val) rs779282500
NM_001854.3(COL11A1):c.652-6dupT rs36076089
NM_001854.3(COL11A1):c.652-7_652-6dupTT rs36076089
NM_001854.3(COL11A1):c.828A>G (p.Ala276=) rs764926559
NM_001854.3(COL11A1):c.926A>T (p.Tyr309Phe) rs766508371

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.