ClinVar Miner

List of variants in gene COL2A1 studied for Pierre Robin syndrome associated with collagen disease

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP
COL2A1, 1-BP DEL, EX40
COL2A1, 1-BP DEL, EX50
COL2A1, 2-BP DEL, 4274GT
COL2A1, 28-BP DEL
COL2A1, IVS10AS, A-G, -2
COL2A1, IVS17, A-G, -2
COL2A1, IVS20, A-G, -2
COL2A1, IVS24, G-A, +5
COL2A1, IVS25DS, G-A, +1
COL2A1, IVS51DS, T-C, +2
NC_000012.12:g.47985588_47985589del
NM_001844.4(COL2A1):c.609+4delA rs1555168965
NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs) rs1555168309
NM_001844.5(COL2A1):c.1122+1G>C rs1565686170
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) rs672601355
NM_001844.5(COL2A1):c.1266+1del rs587776847
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) rs121912896
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=) rs755093756
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1581+4_1581+7del rs1565682292
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr) rs121912898
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) rs1565679039
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2355+2del rs1555166295
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) rs886042009
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) rs672601354
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) rs1555164735
NM_001844.5(COL2A1):c.578_579GC[1] (p.Ala194fs)
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) rs121912872
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) rs121912877
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) rs121912894

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.