ClinVar Miner

List of variants in gene COL6A1 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.*171C>T rs1025930399 0.00038
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001848.3(COL6A1):c.*526C>T rs866939049 0.00019
NM_001848.3(COL6A1):c.*367C>A rs546403892 0.00016
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=) rs369802454 0.00014
NM_001848.3(COL6A1):c.*13G>A rs376729246 0.00013
NM_001848.3(COL6A1):c.*754C>T rs886057163 0.00013
NM_001848.3(COL6A1):c.594G>A (p.Pro198=) rs376592866 0.00013
NM_001848.3(COL6A1):c.*814C>T rs886057164 0.00012
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg) rs756141940 0.00011
NM_001848.3(COL6A1):c.*985C>T rs778917156 0.00010
NM_001848.3(COL6A1):c.*182A>G rs886057159 0.00009
NM_001848.3(COL6A1):c.*369C>T rs967364586 0.00009
NM_001848.3(COL6A1):c.227+11C>T rs371425947 0.00009
NM_001848.3(COL6A1):c.*648C>T rs755204063 0.00006
NM_001848.3(COL6A1):c.*785C>T rs557900713 0.00006
NM_001848.3(COL6A1):c.*675G>A rs867951149 0.00005
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_001848.3(COL6A1):c.*78G>A rs751232299 0.00004
NM_001848.3(COL6A1):c.1119+13C>T rs199655304 0.00004
NM_001848.3(COL6A1):c.*851T>C rs886057165 0.00003
NM_001848.3(COL6A1):c.1208C>G (p.Pro403Arg) rs886057151 0.00003
NM_001848.3(COL6A1):c.1612-15C>G rs886057154 0.00003
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=) rs770099663 0.00003
NM_001848.3(COL6A1):c.759+13C>T rs1250324207 0.00003
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met) rs372199631 0.00002
NM_001848.3(COL6A1):c.*633T>C rs886057161 0.00001
NM_001848.3(COL6A1):c.*635G>A rs886057162 0.00001
NM_001848.3(COL6A1):c.1002+6T>C rs13052179 0.00001
NM_001848.3(COL6A1):c.1349C>T (p.Pro450Leu) rs759834554 0.00001
NM_001848.3(COL6A1):c.1710A>C (p.Ala570=) rs763515261 0.00001
NM_001848.3(COL6A1):c.1770G>A (p.Gly590=) rs752980359 0.00001
NM_001848.3(COL6A1):c.2030G>A (p.Arg677His) rs373731596 0.00001
NM_001848.3(COL6A1):c.2958G>C (p.Leu986=) rs886057157 0.00001
NM_001848.3(COL6A1):c.549C>T (p.Gly183=) rs398123636 0.00001
NM_001848.3(COL6A1):c.739-9C>T rs886057149 0.00001
NM_001848.3(COL6A1):c.884T>A (p.Val295Asp) rs376316038 0.00001
NM_001848.3(COL6A1):c.*138G>A rs2077867191
NM_001848.3(COL6A1):c.*146G>A rs558686036
NM_001848.3(COL6A1):c.*236G>A rs2077867931
NM_001848.3(COL6A1):c.*343G>A rs554489309
NM_001848.3(COL6A1):c.*343G>C rs554489309
NM_001848.3(COL6A1):c.*447T>C rs2077869854
NM_001848.3(COL6A1):c.*555CTC[1] rs886057160
NM_001848.3(COL6A1):c.*61AG[1] rs886057158
NM_001848.3(COL6A1):c.*940C>T rs545323453
NM_001848.3(COL6A1):c.-76G>A rs886057148
NM_001848.3(COL6A1):c.1209C>G (p.Pro403=) rs763249073
NM_001848.3(COL6A1):c.1277G>A (p.Gly426Asp) rs886057152
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr) rs886057153
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr) rs760275915
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu) rs1556428597
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1777-9C>T rs2077836060
NM_001848.3(COL6A1):c.1785G>A (p.Glu595=) rs2077836249
NM_001848.3(COL6A1):c.1822+11G>A rs566601241
NM_001848.3(COL6A1):c.1890C>T (p.Asn630=) rs886057156
NM_001848.3(COL6A1):c.228-7C>T rs2077724467
NM_001848.3(COL6A1):c.2465-13C>T rs370893941
NM_001848.3(COL6A1):c.2524A>G (p.Ser842Gly) rs2077860935
NM_001848.3(COL6A1):c.2798G>A (p.Gly933Asp) rs2077863585
NM_001848.3(COL6A1):c.583C>G (p.His195Asp) rs2077740811
NM_001848.3(COL6A1):c.764dup (p.Arg256fs) rs886057150
NM_001848.3(COL6A1):c.826C>T (p.Leu276Phe) rs2077759335

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.