ClinVar Miner

Variants in gene COL11A1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2694 381 0 95 222 0 14 311

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 15 3 0 0
likely pathogenic 15 0 12 0 0
uncertain significance 3 12 0 150 87
likely benign 0 0 150 0 80
benign 0 0 87 80 0

All variants with conflicting interpretations #

Total variants: 311
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00862
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00507
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00274
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197 0.00274
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745 0.00267
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00259
NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=) rs149367044 0.00249
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_001854.4(COL11A1):c.3925-11C>T rs192518657 0.00197
NM_001854.4(COL11A1):c.3384+13T>G rs201970483 0.00192
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00177
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_001854.4(COL11A1):c.3024+13T>C rs201141572 0.00165
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062 0.00161
NM_001854.4(COL11A1):c.*17A>G rs190728953 0.00145
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00111
NM_001854.4(COL11A1):c.4465-17G>A rs201511614 0.00105
NM_001854.4(COL11A1):c.3925-16C>T rs201491791 0.00104
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=) rs138691968 0.00097
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00086
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_001854.4(COL11A1):c.489-7T>G rs372555374 0.00068
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00066
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726 0.00036
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00036
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala) rs144966407 0.00036
NM_001854.4(COL11A1):c.990+7C>T rs137867554 0.00036
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00029
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00027
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly) rs139480042 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171 0.00023
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636 0.00023
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_001854.4(COL11A1):c.1296A>G (p.Ala432=) rs768321160 0.00018
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429 0.00018
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979 0.00015
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580 0.00015
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro) rs371230505 0.00014
NM_001854.4(COL11A1):c.946A>G (p.Ser316Gly) rs369794634 0.00014
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 0.00013
NM_001854.4(COL11A1):c.3492+3G>A rs372941709 0.00013
NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro) rs370534700 0.00013
NM_001854.4(COL11A1):c.1504G>T (p.Asp502Tyr) rs1212773301 0.00012
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser) rs367824632 0.00012
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355 0.00011
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) rs142523692 0.00011
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00010
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001854.4(COL11A1):c.4087-4A>G rs137999403 0.00010
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500 0.00010
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met) rs759287748 0.00009
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr) rs377044024 0.00008
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys) rs372387693 0.00007
NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln) rs192313594 0.00007
NM_001854.4(COL11A1):c.2150A>G (p.Gln717Arg) rs142524348 0.00007
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769 0.00007
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn) rs144510951 0.00007
NM_001854.4(COL11A1):c.1032G>A (p.Thr344=) rs367998577 0.00006
NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn) rs572826781 0.00006
NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg) rs199875795 0.00006
NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu) rs776773238 0.00006
NM_001854.4(COL11A1):c.269T>A (p.Phe90Tyr) rs986681092 0.00006
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg) rs760387652 0.00006
NM_001854.4(COL11A1):c.3600+8G>A rs188045535 0.00006
NM_001854.4(COL11A1):c.4586T>C (p.Leu1529Pro) rs578137786 0.00006
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=) rs530187653 0.00005
NM_001854.4(COL11A1):c.2168C>A (p.Ala723Asp) rs758354863 0.00005
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=) rs767276283 0.00005
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro) rs775587076 0.00005
NM_001854.4(COL11A1):c.4328A>C (p.Lys1443Thr) rs769350133 0.00005
NM_001854.4(COL11A1):c.4508C>G (p.Pro1503Arg) rs528529875 0.00005
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn) rs199942159 0.00004
NM_001854.4(COL11A1):c.1177C>A (p.Pro393Thr) rs556692411 0.00004
NM_001854.4(COL11A1):c.1320C>T (p.Val440=) rs201585594 0.00004
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His) rs752749747 0.00004
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr) rs150428394 0.00004
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met) rs770162224 0.00004
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) rs142506188 0.00004
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His) rs148464130 0.00004
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val) rs138507620 0.00004
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=) rs917541931 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_001854.4(COL11A1):c.4925C>T (p.Thr1642Ile) rs1173031118 0.00004
NM_001854.4(COL11A1):c.510C>T (p.Ser170=) rs749497678 0.00004
NM_001854.4(COL11A1):c.784G>A (p.Ala262Thr) rs777664906 0.00004
NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr) rs779346604 0.00004
NM_001854.4(COL11A1):c.1147T>A (p.Phe383Ile) rs368746938 0.00003
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser) rs1156500992 0.00003
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=) rs371490794 0.00003
NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val) rs775644641 0.00003
NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys) rs756352775 0.00003
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu) rs534777436 0.00003
NM_001854.4(COL11A1):c.194A>G (p.Lys65Arg) rs200396868 0.00003
NM_001854.4(COL11A1):c.2295+5C>T rs369103119 0.00003
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn) rs762668220 0.00003
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00003
NM_001854.4(COL11A1):c.2925C>T (p.Thr975=) rs369136682 0.00003
NM_001854.4(COL11A1):c.3230C>T (p.Pro1077Leu) rs373734529 0.00003
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu) rs958678153 0.00003
NM_001854.4(COL11A1):c.35G>A (p.Arg12Gln) rs767496065 0.00003
NM_001854.4(COL11A1):c.3775G>C (p.Glu1259Gln) rs148517780 0.00003
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu) rs750838060 0.00003
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) rs370988085 0.00003
NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu) rs543199135 0.00003
NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr) rs769920499 0.00003
NM_001854.4(COL11A1):c.5414T>A (p.Leu1805His) rs779088327 0.00003
NM_001854.4(COL11A1):c.602A>G (p.Asn201Ser) rs201647477 0.00003
NM_001854.4(COL11A1):c.611C>T (p.Thr204Met) rs199595073 0.00003
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474 0.00003
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu) rs945959591 0.00003
NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met) rs544289862 0.00002
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys) rs761451204 0.00002
NM_001854.4(COL11A1):c.1371T>G (p.Gly457=) rs780360994 0.00002
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser) rs375314757 0.00002
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=) rs942911563 0.00002
NM_001854.4(COL11A1):c.2722G>A (p.Gly908Ser) rs758953085 0.00002
NM_001854.4(COL11A1):c.2920C>A (p.Pro974Thr) rs780750875 0.00002
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=) rs375400337 0.00002
NM_001854.4(COL11A1):c.3361T>G (p.Ser1121Ala) rs778937772 0.00002
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg) rs986400534 0.00002
NM_001854.4(COL11A1):c.4213G>A (p.Gly1405Ser) rs376137502 0.00002
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00002
NM_001854.4(COL11A1):c.475A>G (p.Ile159Val) rs774693614 0.00002
NM_001854.4(COL11A1):c.483C>T (p.Asp161=) rs557000127 0.00002
NM_001854.4(COL11A1):c.818A>G (p.Tyr273Cys) rs763484552 0.00002
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652 0.00002
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter) rs776004614 0.00001
NM_001854.4(COL11A1):c.1043A>T (p.Tyr348Phe) rs539811607 0.00001
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg) rs751155680 0.00001
NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp) rs1402379236 0.00001
NM_001854.4(COL11A1):c.1096G>A (p.Asp366Asn) rs773168949 0.00001
NM_001854.4(COL11A1):c.1099G>A (p.Gly367Ser) rs748391176 0.00001
NM_001854.4(COL11A1):c.1100G>A (p.Gly367Asp) rs1402186540 0.00001
NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr) rs376421641 0.00001
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala) rs538837278 0.00001
NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp) rs748335883 0.00001
NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys) rs995254814 0.00001
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile) rs755173952 0.00001
NM_001854.4(COL11A1):c.1414-9T>A rs794727062 0.00001
NM_001854.4(COL11A1):c.1438C>T (p.Pro480Ser) rs777428839 0.00001
NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile) rs536428525 0.00001
NM_001854.4(COL11A1):c.1493G>A (p.Arg498His) rs545363972 0.00001
NM_001854.4(COL11A1):c.1523C>T (p.Thr508Ile) rs1432496942 0.00001
NM_001854.4(COL11A1):c.1624C>T (p.Pro542Ser) rs745841296 0.00001
NM_001854.4(COL11A1):c.1696G>A (p.Val566Ile) rs1251543692 0.00001
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu) rs760689529 0.00001
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser) rs1194226000 0.00001
NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala) rs560019202 0.00001
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser) rs746192125 0.00001
NM_001854.4(COL11A1):c.1776A>T (p.Gly592=) rs1211057639 0.00001
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys) rs1272896075 0.00001
NM_001854.4(COL11A1):c.1948C>T (p.Pro650Ser) rs202080663 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.2122A>G (p.Ile708Val) rs772339760 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu) rs754657948 0.00001
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg) rs775660447 0.00001
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_001854.4(COL11A1):c.2536C>A (p.Pro846Thr) rs750390186 0.00001
NM_001854.4(COL11A1):c.2551C>T (p.Pro851Ser) rs1367668493 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.2635C>T (p.Arg879Trp) rs771754817 0.00001
NM_001854.4(COL11A1):c.2645G>A (p.Arg882His) rs779869745 0.00001
NM_001854.4(COL11A1):c.268T>A (p.Phe90Ile) rs373790561 0.00001
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602 0.00001
NM_001854.4(COL11A1):c.274+5A>G rs1571238473 0.00001
NM_001854.4(COL11A1):c.2768C>T (p.Pro923Leu) rs375398395 0.00001
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His) rs368422725 0.00001
NM_001854.4(COL11A1):c.2881G>A (p.Gly961Ser) rs975084437 0.00001
NM_001854.4(COL11A1):c.2951G>A (p.Arg984His) rs147271219 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys) rs377320274 0.00001
NM_001854.4(COL11A1):c.3077G>A (p.Arg1026His) rs944650989 0.00001
NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu) rs773157346 0.00001
NM_001854.4(COL11A1):c.3147C>G (p.Pro1049=) rs539284752 0.00001
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala) rs758428843 0.00001
NM_001854.4(COL11A1):c.3185G>A (p.Arg1062His) rs1234848212 0.00001
NM_001854.4(COL11A1):c.331A>T (p.Ile111Phe) rs759153754 0.00001
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu) rs764478054 0.00001
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=) rs763588142 0.00001
NM_001854.4(COL11A1):c.3496G>T (p.Gly1166Cys) rs777456846 0.00001
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val) rs202212358 0.00001
NM_001854.4(COL11A1):c.361G>A (p.Glu121Lys) rs762173332 0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097 0.00001
NM_001854.4(COL11A1):c.365A>C (p.His122Pro) rs1315092621 0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240 0.00001
NM_001854.4(COL11A1):c.3763-4A>G rs1194043670 0.00001
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp) rs780739712 0.00001
NM_001854.4(COL11A1):c.3869C>G (p.Ala1290Gly) rs199555214 0.00001
NM_001854.4(COL11A1):c.3982C>A (p.Gln1328Lys) rs750014974 0.00001
NM_001854.4(COL11A1):c.4064C>T (p.Pro1355Leu) rs773288292 0.00001
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile) rs1239154521 0.00001
NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser) rs763199410 0.00001
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp) rs778331804 0.00001
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=) rs762511819 0.00001
NM_001854.4(COL11A1):c.4363C>T (p.Pro1455Ser) rs184965786 0.00001
NM_001854.4(COL11A1):c.4418G>A (p.Arg1473Gln) rs369947899 0.00001
NM_001854.4(COL11A1):c.4445C>T (p.Pro1482Leu) rs1246567657 0.00001
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg) rs146997967 0.00001
NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser) rs1374575593 0.00001
NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=) rs202048103 0.00001
NM_001854.4(COL11A1):c.4692T>G (p.Asp1564Glu) rs377486490 0.00001
NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr) rs780611200 0.00001
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly) rs756511227 0.00001
NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr) rs1277867710 0.00001
NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro) rs865904271 0.00001
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) rs146954848 0.00001
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145 0.00001
NM_001854.4(COL11A1):c.4859-3T>C rs774985706 0.00001
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp) rs780211105 0.00001
NM_001854.4(COL11A1):c.511G>A (p.Val171Met) rs751182532 0.00001
NM_001854.4(COL11A1):c.534G>C (p.Met178Ile) rs758827956 0.00001
NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg) rs1351190778 0.00001
NM_001854.4(COL11A1):c.807T>C (p.Tyr269=) rs1387166862 0.00001
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr) rs748315186 0.00001
NM_001854.4(COL11A1):c.973G>T (p.Val325Phe) rs746633493 0.00001
NM_001854.4(COL11A1):c.97G>A (p.Val33Ile) rs755307749 0.00001
NM_001854.4(COL11A1):c.990+8G>A rs756299328 0.00001
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) rs141036911
NM_001854.4(COL11A1):c.1068G>A (p.Glu356=) rs2101946145
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer) rs1343199316
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.1246-9A>C rs375455188
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=) rs760330151
NM_001854.4(COL11A1):c.1562A>G (p.Gln521Arg) rs770438816
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1664G>A (p.Ser555Asn)
NM_001854.4(COL11A1):c.1718C>T (p.Thr573Met) rs202011565
NM_001854.4(COL11A1):c.174G>A (p.Thr58=) rs530441485
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[13] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.1859C>T (p.Pro620Leu) rs777479105
NM_001854.4(COL11A1):c.1945-7C>A rs201424786
NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter) rs2525370664
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr) rs767790003
NM_001854.4(COL11A1):c.2043+4T>A rs764236870
NM_001854.4(COL11A1):c.2098-4dup rs764570124
NM_001854.4(COL11A1):c.2241+5G>T rs2101800665
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2340+9_2340+13del rs374301870
NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp) rs886044242
NM_001854.4(COL11A1):c.2630G>C (p.Gly877Ala)
NM_001854.4(COL11A1):c.275-17del rs3841819
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2862+5G>A rs1661827915
NM_001854.4(COL11A1):c.2916+1G>A rs2101595036
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=) rs368868551
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=) rs2524927339
NM_001854.4(COL11A1):c.3169-13T>C rs182777459
NM_001854.4(COL11A1):c.3276+5G>A rs2101406246
NM_001854.4(COL11A1):c.3448G>A (p.Gly1150Ser)
NM_001854.4(COL11A1):c.3508C>T (p.Pro1170Ser) rs771888200
NM_001854.4(COL11A1):c.3677C>G (p.Pro1226Arg)
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
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>C rs2524540006
NM_001854.4(COL11A1):c.3762G>C (p.Lys1254Asn) rs2101066494
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
NM_001854.4(COL11A1):c.3816+2dup rs1469787406
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.3817-14_3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-15_3817-13dup rs34228277
NM_001854.4(COL11A1):c.4070G>A (p.Gly1357Asp) rs2524455111
NM_001854.4(COL11A1):c.4086+5G>A rs2524454786
NM_001854.4(COL11A1):c.4151G>T (p.Gly1384Val)
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4536G>A (p.Lys1512=) rs1254445828
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln) rs371100196
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001854.4(COL11A1):c.497G>A (p.Arg166Gln) rs142753283
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu) rs541676352
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) rs532113782
NM_001854.4(COL11A1):c.5329C>G (p.Gln1777Glu) rs762806617
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys) rs184606223
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001854.4(COL11A1):c.565C>A (p.Pro189Thr) rs201557468
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001854.4(COL11A1):c.612G>T (p.Thr204=) rs545867472
NM_001854.4(COL11A1):c.652-17T>G rs555770298
NM_001854.4(COL11A1):c.652-18_652-16dup rs36076089
NM_001854.4(COL11A1):c.652-6_652-5insTTC rs749687230
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089
NM_001854.4(COL11A1):c.67G>T (p.Ala23Ser) rs1386580787
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr) rs372319750
NM_001854.4(COL11A1):c.787C>T (p.Pro263Ser) rs372319750
NM_001854.4(COL11A1):c.828A>T (p.Ala276=) rs764926559

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.