ClinVar Miner

List of variants in gene COL11A1 studied for Marshall syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2295+37A>T rs2622867 0.91369
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486 0.81716
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347 0.64340
NM_001854.4(COL11A1):c.2611-19A>C rs11164649 0.57301
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783 0.49335
NM_001854.4(COL11A1):c.274+42G>C rs11164662 0.48053
NM_001854.4(COL11A1):c.2656-28T>C rs1903787 0.32791
NM_001854.4(COL11A1):c.3168+41T>C rs1012282 0.29091
NM_001854.4(COL11A1):c.275-7T>C rs12136865 0.14046
NM_001854.4(COL11A1):c.1998+4T>A rs12136577 0.10860
NM_001854.4(COL11A1):c.3025-23A>T rs55682104 0.07912
NM_001854.4(COL11A1):c.651+16A>G rs116303092 0.01555
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_001854.4(COL11A1):c.*628dup rs532806397 0.00093
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_001854.4(COL11A1):c.-198_-195del rs886044981 0.00031
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.4140+13del rs781736900 0.00012
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_001854.4(COL11A1):c.4032+16A>G rs200202502 0.00006
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_001854.4(COL11A1):c.3817-10C>A rs776718424 0.00003
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237 0.00001
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr) rs1651478594 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 0.00001
NM_001854.4(COL11A1):c.-231dup rs886044983
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter) rs1667208458
NM_001854.4(COL11A1):c.1351-1G>A rs1666692498
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)
NM_001854.4(COL11A1):c.1999-10T>C rs1665243141
NM_001854.4(COL11A1):c.2245C>T (p.Pro749Ser) rs1664593626
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del) rs2101750401
NM_001854.4(COL11A1):c.2508dup (p.Leu837fs) rs1663313424
NM_001854.4(COL11A1):c.2590A>C (p.Asn864His) rs1557897680
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) rs2101679210
NM_001854.4(COL11A1):c.298del (p.Ser100fs)
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser) rs764282256
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu) rs17127270
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3511G>C (p.Gly1171Arg)
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
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+2dup rs1469787406
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.3817-25dup rs34228277
NM_001854.4(COL11A1):c.385G>A (p.Val129Ile) rs1672174219
NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln) rs528959090
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) rs763199410
NM_001854.4(COL11A1):c.4303-13del rs35232764
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4357-16dup rs748850423
NM_001854.4(COL11A1):c.4519-2del rs2100852418
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC

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.