ClinVar Miner

List of variants in gene COL11A1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter) rs776004614 0.00001
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_001854.4(COL11A1):c.3241G>C (p.Gly1081Arg) rs397514455 0.00001
GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1
NC_000001.10:g.(?_103343575)_(103573734_?)del
NC_000001.10:g.(?_103345219)_(103356080_?)del
NC_000001.10:g.(?_103377695)_(103381260_?)del
NC_000001.10:g.(?_103377695)_(103412532_?)del
NC_000001.10:g.(?_103388872)_(103388965_?)del
NC_000001.10:g.(?_103412385)_(103449767_?)del
NC_000001.10:g.(?_103427402)_(103573734_?)del
NM_001854.4(COL11A1):c.1162G>T (p.Glu388Ter)
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer) rs1343199316
NM_001854.4(COL11A1):c.1191del (p.Asn398fs)
NM_001854.4(COL11A1):c.1630-1G>C rs2101869722
NM_001854.4(COL11A1):c.1630-1G>T
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp) rs886039743
NM_001854.4(COL11A1):c.1737+2T>G
NM_001854.4(COL11A1):c.1786dup (p.Ala596fs) rs730882190
NM_001854.4(COL11A1):c.1791+1del
NM_001854.4(COL11A1):c.1852C>T (p.Arg618Ter) rs1469521034
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) rs121912943
NM_001854.4(COL11A1):c.1900-2A>G
NM_001854.4(COL11A1):c.2024del (p.Pro675fs)
NM_001854.4(COL11A1):c.2149C>T (p.Gln717Ter)
NM_001854.4(COL11A1):c.2156_2157insT (p.Lys719fs) rs1274185001
NM_001854.4(COL11A1):c.2193_2194dup (p.Pro732fs) rs745956910
NM_001854.4(COL11A1):c.2324G>A (p.Gly775Glu)
NM_001854.4(COL11A1):c.2335G>T (p.Glu779Ter)
NM_001854.4(COL11A1):c.2350G>C (p.Gly784Arg) rs387906611
NM_001854.4(COL11A1):c.2452C>T (p.Arg818Ter)
NM_001854.4(COL11A1):c.254del (p.Pro85fs)
NM_001854.4(COL11A1):c.2580del (p.Pro861fs)
NM_001854.4(COL11A1):c.2603G>A (p.Gly868Asp) rs2101683875
NM_001854.4(COL11A1):c.2611-2A>T
NM_001854.4(COL11A1):c.2662C>T (p.Arg888Ter) rs748815162
NM_001854.4(COL11A1):c.2707A>T (p.Lys903Ter)
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2755-2A>G rs2101653580
NM_001854.4(COL11A1):c.2808+1G>A rs1553223152
NM_001854.4(COL11A1):c.2808+1G>C
NM_001854.4(COL11A1):c.2808+2del
NM_001854.4(COL11A1):c.2808+3_2808+6del rs2101652956
NM_001854.4(COL11A1):c.2809-1G>A
NM_001854.4(COL11A1):c.2809-2A>C
NM_001854.4(COL11A1):c.2809-2A>G rs1661835277
NM_001854.4(COL11A1):c.2809-3C>G
NM_001854.4(COL11A1):c.2916+1G>A rs2101595036
NM_001854.4(COL11A1):c.2927G>T (p.Gly976Val) rs121912944
NM_001854.4(COL11A1):c.3168+1G>A rs886042653
NM_001854.4(COL11A1):c.3168+1G>T rs886042653
NM_001854.4(COL11A1):c.3168+2_3168+12del rs1570877567
NM_001854.4(COL11A1):c.3292C>T (p.Gln1098Ter) rs2101305801
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904
NM_001854.4(COL11A1):c.3655-2del rs2101074868
NM_001854.4(COL11A1):c.3709-1G>A rs727503881
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs) rs2101066868
NM_001854.4(COL11A1):c.3740C>G (p.Ser1247Ter) rs1655833195
NM_001854.4(COL11A1):c.3762+2T>G
NM_001854.4(COL11A1):c.3763-2A>C
NM_001854.4(COL11A1):c.3814_3816+1del rs2101038943
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.3816+1G>C rs398122828
NM_001854.4(COL11A1):c.3816+1G>T
NM_001854.4(COL11A1):c.3816+2dup rs1469787406
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.3939del (p.Pro1314fs)
NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter) rs1557812993
NM_001854.4(COL11A1):c.3978+1G>A rs1570712889
NM_001854.4(COL11A1):c.4032+1G>A rs1553200868
NM_001854.4(COL11A1):c.4067_4068del (p.Pro1356fs)
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter) rs755987732
NM_001854.4(COL11A1):c.4131del (p.Gly1378fs) rs2100925460
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter) rs866783525
NM_001854.4(COL11A1):c.4417C>T (p.Arg1473Ter)
NM_001854.4(COL11A1):c.4519-2A>G rs2100852410
NM_001854.4(COL11A1):c.4519-2del rs2100852418
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_001854.4(COL11A1):c.4565G>A (p.Gly1522Asp)
NM_001854.4(COL11A1):c.4813C>T (p.Arg1605Ter)
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001854.4(COL11A1):c.4882C>T (p.Gln1628Ter)
NM_001854.4(COL11A1):c.494A>T (p.His165Leu) rs2102282139
NM_001854.4(COL11A1):c.4985C>G (p.Ser1662Ter) rs956233074
NM_001854.4(COL11A1):c.5009_5013del (p.Ser1670fs) rs2101017789
NM_001854.4(COL11A1):c.5033dup (p.Leu1680fs)
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_001854.4(COL11A1):c.652-2A>C rs747787770
NM_001854.4(COL11A1):c.729_730del (p.Cys243_Asp244delinsTer)
NM_001854.4(COL11A1):c.781-70T>G rs587782990
NM_001854.4(COL11A1):c.802G>T (p.Glu268Ter)
NM_001854.4(COL11A1):c.830_831dup (p.Tyr278fs)
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC

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