ClinVar Miner

List of variants in gene COL9A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 365
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.1230+211T>C rs551470 0.96455
NM_001851.6(COL9A1):c.1504-32T>G rs633762 0.83978
NM_001851.6(COL9A1):c.2582-114C>T rs1200569 0.77585
NM_001851.6(COL9A1):c.976-87A>G rs603304 0.51791
NM_001851.6(COL9A1):c.1230+143G>A rs550675 0.49176
NM_001851.6(COL9A1):c.1765-26T>C rs519068 0.48558
NM_001851.6(COL9A1):c.15-54G>A rs2242589 0.47156
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro) rs592121 0.46927
NM_001851.6(COL9A1):c.1449+61G>A rs2024730 0.43730
NM_001851.6(COL9A1):c.1720-147A>G rs701688 0.42598
NM_001851.6(COL9A1):c.1720-100T>C rs701689 0.42589
NM_001851.6(COL9A1):c.1720-24A>C rs701690 0.42215
NM_001851.6(COL9A1):c.*266T>C rs1064250 0.40880
NM_001851.6(COL9A1):c.1503+298T>C rs506908 0.39345
NM_001851.6(COL9A1):c.1065+271C>T rs7754619 0.39266
NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg) rs1135056 0.38283
NM_001851.6(COL9A1):c.1066-273A>C rs12530229 0.37761
NM_001851.6(COL9A1):c.1450-270C>T rs1711729 0.37353
NM_001851.6(COL9A1):c.2259+32T>C rs12191701 0.36512
NM_001851.6(COL9A1):c.976-88C>T rs2274583 0.32386
NM_001851.6(COL9A1):c.975+132T>A rs6455360 0.23862
NM_001851.6(COL9A1):c.1872+78T>C rs2274586 0.22415
NM_001851.6(COL9A1):c.1144-177T>C rs2296930 0.22403
NM_001851.6(COL9A1):c.975+45G>A rs7764822 0.21907
NM_001851.6(COL9A1):c.14+39A>G rs2242588 0.21553
NM_001851.6(COL9A1):c.89-12T>C rs12210123 0.20825
NM_001851.6(COL9A1):c.1288-65T>C rs883708 0.20312
NM_001851.6(COL9A1):c.2582-149C>G rs2881343 0.19251
NM_001851.6(COL9A1):c.1449+245T>C rs113677659 0.18980
NM_001851.4(COL9A1):c.-364C>G rs6916646 0.18833
NM_001851.6(COL9A1):c.1765-201C>T rs1321059 0.18322
NM_001851.6(COL9A1):c.1927-243C>T rs6455357 0.18124
NM_001851.6(COL9A1):c.2259+55C>G rs10945205 0.15888
NM_001851.6(COL9A1):c.1765-163G>A rs9455017 0.15870
NM_001851.6(COL9A1):c.1765-146A>G rs9446215 0.15860
NM_001851.6(COL9A1):c.1230+12T>C rs6935778 0.15856
NM_001851.6(COL9A1):c.2080-118G>A rs45464198 0.15769
NM_001851.6(COL9A1):c.1450-206T>C rs10945208 0.15475
NM_001851.6(COL9A1):c.2080-90T>C rs13216129 0.15047
NM_001851.6(COL9A1):c.2314+119C>G rs12197487 0.14928
NM_001851.6(COL9A1):c.2314+235G>T rs10945204 0.14582
NM_001851.6(COL9A1):c.1395+239A>G rs10945209 0.13470
NM_001851.6(COL9A1):c.1612-26C>A rs13219431 0.13355
NM_001851.6(COL9A1):c.1342-200T>A rs10945210 0.12656
NM_001851.6(COL9A1):c.1288-188A>C rs12196905 0.12653
NM_001851.6(COL9A1):c.1341+117T>A rs12195310 0.12631
NM_001851.6(COL9A1):c.1030-178T>C rs701683 0.12073
NM_001851.6(COL9A1):c.88+150G>T rs9455036 0.11871
NM_001851.6(COL9A1):c.88+151T>A rs9455035 0.11871
NM_001851.6(COL9A1):c.15-199C>G rs9446221 0.10455
NM_001851.6(COL9A1):c.2034+177A>G rs73749919 0.10200
NM_001851.6(COL9A1):c.*229T>C rs2459555 0.09712
NM_001851.6(COL9A1):c.2080-30T>C rs9446213 0.07884
NM_001851.6(COL9A1):c.2035-162A>G rs571510344 0.07883
NM_001851.6(COL9A1):c.1999-83T>C rs9455013 0.07822
NM_001851.6(COL9A1):c.976-173C>A rs603410 0.07801
NM_001851.6(COL9A1):c.2079+37A>G rs6914511 0.07742
NM_001851.6(COL9A1):c.1071T>C (p.Arg357=) rs607156 0.07381
NM_001851.6(COL9A1):c.1287+110A>G rs10755539 0.07340
NM_001851.6(COL9A1):c.877-23C>G rs6928611 0.07064
NM_001851.6(COL9A1):c.1998+220G>T rs73749922 0.06978
NM_001851.6(COL9A1):c.1998+224G>T rs73749921 0.06978
NM_001851.6(COL9A1):c.-107A>G rs9455037 0.05976
NM_001851.6(COL9A1):c.15-88_15-82del rs71711228 0.05613
NM_001851.6(COL9A1):c.15-134A>G rs941438239 0.04976
NM_001851.6(COL9A1):c.88+108C>T rs9294863 0.04851
NM_001851.6(COL9A1):c.780+171T>G rs62420260 0.04839
NM_001851.6(COL9A1):c.2503+69C>T rs74699744 0.04826
NM_001851.6(COL9A1):c.1926+300T>C rs75350484 0.04823
NM_001851.6(COL9A1):c.780+380G>A rs72927370 0.04731
NM_001851.6(COL9A1):c.1066-36C>A rs77357454 0.04608
NM_001851.6(COL9A1):c.1066-316C>A rs117607348 0.04604
NM_001851.6(COL9A1):c.876+13C>T rs117215769 0.04499
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_001851.6(COL9A1):c.1719+122A>G rs6923863 0.04272
NM_001851.6(COL9A1):c.1666-65C>T rs620023 0.04262
NM_001851.6(COL9A1):c.1504-14T>A rs537940 0.04260
NM_001851.6(COL9A1):c.1665+54A>G rs542440 0.04253
NM_001851.6(COL9A1):c.88+195G>A rs117426118 0.04187
NM_001851.6(COL9A1):c.1198-232T>C rs6936355 0.04152
NM_001851.6(COL9A1):c.1197+265C>T rs6913123 0.04131
NM_001851.6(COL9A1):c.1230+292C>T rs3737010 0.04079
NM_001851.6(COL9A1):c.1720-115A>G rs3806081 0.04039
NM_001851.6(COL9A1):c.1342-152T>G rs11760185 0.03978
NM_001851.6(COL9A1):c.2504-47A>G rs79282554 0.03680
NM_001851.6(COL9A1):c.1719+238T>A rs2296931 0.03673
NM_001851.6(COL9A1):c.1144-264T>C rs16868852 0.03528
NM_001851.6(COL9A1):c.2113-90C>T rs72923125 0.03442
NM_001851.6(COL9A1):c.2113-182G>A rs72923127 0.03434
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_001851.6(COL9A1):c.14+132G>A rs117734911 0.02830
NM_001851.6(COL9A1):c.1231-141G>A rs78257047 0.02702
NM_001851.6(COL9A1):c.1764+273A>T rs75073449 0.02624
NM_001851.6(COL9A1):c.1143+308C>G rs16868866 0.02480
NM_001851.6(COL9A1):c.1066-324G>A rs1887762 0.02451
NM_001851.6(COL9A1):c.1066-218A>T rs78944678 0.02229
NM_001851.6(COL9A1):c.1030-20G>T rs16868897 0.02172
NM_001851.6(COL9A1):c.1030-301G>A rs112075981 0.02160
NM_001851.6(COL9A1):c.1231-79G>T rs116114924 0.02083
NM_001851.6(COL9A1):c.2112+69T>C rs115948163 0.02035
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578 0.01848
NM_001851.6(COL9A1):c.912+37C>T rs41303785 0.01812
NM_001851.6(COL9A1):c.1396-87C>T rs114865373 0.01786
NM_001851.6(COL9A1):c.1999-95C>T rs75139444 0.01663
NM_001851.6(COL9A1):c.2582-164T>C rs9455005 0.01460
NM_001851.6(COL9A1):c.2582-103G>A rs9455004 0.01439
NC_000006.12:g.70303155G>A rs73747757 0.01372
NM_001851.6(COL9A1):c.802-22C>T rs73745359 0.01297
NM_001851.6(COL9A1):c.2271G>A (p.Pro757=) rs2072650 0.01180
NM_001851.6(COL9A1):c.1030-144C>A rs138106425 0.01161
NM_001851.6(COL9A1):c.1927-171C>T rs150796746 0.01126
NM_001851.6(COL9A1):c.14+133G>A rs113812077 0.01008
NM_001851.6(COL9A1):c.2113-191T>C rs74780299 0.00890
NM_001851.6(COL9A1):c.1719+173T>G rs75168457 0.00865
NM_001851.6(COL9A1):c.801+154A>T rs117320420 0.00825
NM_001851.6(COL9A1):c.2582-231A>T rs77849671 0.00787
NM_001851.6(COL9A1):c.801+306G>A rs142034122 0.00777
NM_001851.6(COL9A1):c.1666-32G>A rs72923190 0.00751
NM_001851.6(COL9A1):c.976-157T>C rs41265345 0.00735
NM_001851.6(COL9A1):c.1665+142T>A rs147347330 0.00697
NM_001851.6(COL9A1):c.697-125G>A rs6905075 0.00668
NM_001851.6(COL9A1):c.15-53T>C rs112025673 0.00653
NM_001851.6(COL9A1):c.1288-146T>A rs74917222 0.00588
NM_001851.6(COL9A1):c.1198-164C>T rs79863473 0.00586
NM_001851.6(COL9A1):c.1287+144G>T rs146610513 0.00498
NM_001851.6(COL9A1):c.1656T>C (p.Pro552=) rs80251646 0.00493
NM_001851.6(COL9A1):c.1927-181A>T rs115255573 0.00490
NM_001851.6(COL9A1):c.15-159C>T rs368083151 0.00472
NM_001851.6(COL9A1):c.781-218C>T rs73473599 0.00449
NM_001851.6(COL9A1):c.802-148C>G rs73473597 0.00448
NM_001851.6(COL9A1):c.876+6T>C rs73473595 0.00444
NM_001851.6(COL9A1):c.1341+185T>C rs112738770 0.00442
NM_001851.6(COL9A1):c.876+76G>T rs6934633 0.00407
NM_001851.6(COL9A1):c.1197+11T>C rs73745357 0.00388
NM_001851.6(COL9A1):c.89-28G>A rs183387139 0.00387
NM_001851.6(COL9A1):c.1231-77T>C rs111533861 0.00384
NM_001851.6(COL9A1):c.300-136A>G rs76693521 0.00380
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.1143+191C>T rs6905099 0.00331
NM_001851.6(COL9A1):c.975+198A>G rs115555867 0.00330
NM_001851.6(COL9A1):c.1665+86A>G rs139494795 0.00326
NM_001851.6(COL9A1):c.1065+84T>G rs187706293 0.00324
NM_001851.6(COL9A1):c.1395+301C>T rs139153122 0.00324
NM_001851.6(COL9A1):c.1066-206A>G rs113541357 0.00323
NM_001851.6(COL9A1):c.1342-207T>G rs190799074 0.00323
NM_001851.6(COL9A1):c.1395+14T>A rs367801990 0.00323
NM_001851.6(COL9A1):c.2034+158G>T rs77219154 0.00317
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
NM_001851.6(COL9A1):c.696+26C>A rs145141059 0.00310
NM_001851.6(COL9A1):c.1612-25A>G rs142559198 0.00302
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_001851.6(COL9A1):c.299+14A>C rs138522232 0.00214
NM_001851.6(COL9A1):c.-50A>G rs141436759 0.00213
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_001851.6(COL9A1):c.1288-9A>G rs181039243 0.00133
NM_001851.6(COL9A1):c.801+11G>C rs200305129 0.00113
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001851.6(COL9A1):c.1720-11T>C rs374054294 0.00081
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_001851.6(COL9A1):c.2113-19G>A rs187218937 0.00076
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001851.6(COL9A1):c.1368C>T (p.Leu456=) rs140761349 0.00053
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His) rs142328549 0.00039
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_001851.6(COL9A1):c.876+2dup rs672601329 0.00030
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys) rs141825151 0.00029
NM_001851.6(COL9A1):c.1569T>A (p.Gly523=) rs150970524 0.00027
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001851.6(COL9A1):c.795C>G (p.Thr265=) rs149067801 0.00019
NM_001851.6(COL9A1):c.976-10G>T rs200618486 0.00019
NM_001851.6(COL9A1):c.2304A>G (p.Arg768=) rs138465615 0.00018
NM_001851.6(COL9A1):c.2259+7G>T rs373480203 0.00017
NM_001851.6(COL9A1):c.831C>A (p.Pro277=) rs145800598 0.00017
NM_001851.6(COL9A1):c.1070G>A (p.Arg357His) rs139288475 0.00016
NM_001851.6(COL9A1):c.80G>A (p.Arg27His) rs150026024 0.00016
NM_001851.6(COL9A1):c.1553A>T (p.Asp518Val) rs142539130 0.00013
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001851.6(COL9A1):c.827C>T (p.Pro276Leu) rs200322941 0.00012
NM_001851.6(COL9A1):c.1055G>A (p.Arg352His) rs200540554 0.00011
NM_001851.6(COL9A1):c.1665+5G>T rs369698214 0.00011
NM_001851.6(COL9A1):c.1818+3A>G rs369133694 0.00011
NM_001851.6(COL9A1):c.1992T>G (p.Gly664=) rs138810927 0.00011
NM_001851.6(COL9A1):c.512A>G (p.Asn171Ser) rs201634520 0.00011
NM_001851.6(COL9A1):c.780+7C>A rs370822868 0.00011
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met) rs200018557 0.00009
NM_001851.6(COL9A1):c.38T>C (p.Val13Ala) rs140274454 0.00009
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val) rs186444567 0.00009
NM_001851.6(COL9A1):c.808C>T (p.Pro270Ser) rs376107070 0.00009
NM_001851.6(COL9A1):c.2553C>T (p.Asn851=) rs534752381 0.00008
NM_001851.6(COL9A1):c.15-3C>T rs367798424 0.00007
NM_001851.6(COL9A1):c.1504-19A>C rs377339892 0.00007
NM_001851.6(COL9A1):c.645T>C (p.Asp215=) rs138147561 0.00007
NM_001851.6(COL9A1):c.1138C>T (p.Pro380Ser) rs368495915 0.00006
NM_001851.6(COL9A1):c.1384C>G (p.Gln462Glu) rs201364357 0.00006
NM_001851.6(COL9A1):c.1610C>T (p.Thr537Met) rs141895443 0.00006
NM_001851.6(COL9A1):c.1620A>G (p.Pro540=) rs199559331 0.00006
NM_001851.6(COL9A1):c.2348G>A (p.Arg783His) rs375684014 0.00006
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser) rs199581593 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter) rs374843706 0.00005
NM_001851.6(COL9A1):c.1202C>A (p.Thr401Lys) rs376664058 0.00005
NM_001851.6(COL9A1):c.1376T>C (p.Val459Ala) rs761676771 0.00005
NM_001851.6(COL9A1):c.2401C>T (p.Pro801Ser) rs147095719 0.00005
NM_001851.6(COL9A1):c.1065+75A>T rs1033750704 0.00004
NM_001851.6(COL9A1):c.1322C>A (p.Pro441Gln) rs558743694 0.00004
NM_001851.6(COL9A1):c.1961C>T (p.Pro654Leu) rs766455840 0.00004
NM_001851.6(COL9A1):c.685G>A (p.Val229Ile) rs372320539 0.00004
NM_001851.6(COL9A1):c.1107A>G (p.Ala369=) rs747443799 0.00003
NM_001851.6(COL9A1):c.1342-15C>G rs200223246 0.00003
NM_001851.6(COL9A1):c.1816C>T (p.Pro606Ser) rs773380068 0.00003
NM_001851.6(COL9A1):c.2721C>T (p.Thr907=) rs567606245 0.00003
NM_001851.6(COL9A1):c.548T>C (p.Ile183Thr) rs759724577 0.00003
NM_001851.6(COL9A1):c.83G>A (p.Arg28His) rs778243284 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001851.6(COL9A1):c.116G>T (p.Gly39Val) rs781464240 0.00002
NM_001851.6(COL9A1):c.1404G>A (p.Gln468=) rs371743577 0.00002
NM_001851.6(COL9A1):c.167-4A>G rs374720909 0.00002
NM_001851.6(COL9A1):c.1905C>T (p.Ser635=) rs1057523934 0.00002
NM_001851.6(COL9A1):c.2204G>A (p.Arg735Gln) rs769986009 0.00002
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val) rs781246762 0.00002
NM_001851.6(COL9A1):c.2258C>T (p.Pro753Leu) rs763616322 0.00002
NM_001851.6(COL9A1):c.2260-20T>C rs778775136 0.00002
NM_001851.6(COL9A1):c.751A>G (p.Thr251Ala) rs1478081797 0.00002
NM_001851.6(COL9A1):c.1002T>A (p.Pro334=) rs1057523730 0.00001
NM_001851.6(COL9A1):c.1054C>T (p.Arg352Cys) rs1302609073 0.00001
NM_001851.6(COL9A1):c.1143+48G>T rs559085408 0.00001
NM_001851.6(COL9A1):c.1143+4A>G rs1224302280 0.00001
NM_001851.6(COL9A1):c.1291C>A (p.His431Asn) rs1411242839 0.00001
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_001851.6(COL9A1):c.1661C>A (p.Thr554Lys) rs1771183436 0.00001
NM_001851.6(COL9A1):c.1665+20C>G rs1388265270 0.00001
NM_001851.6(COL9A1):c.1666-18T>C rs752952751 0.00001
NM_001851.6(COL9A1):c.1701A>G (p.Ala567=) rs1057523729 0.00001
NM_001851.6(COL9A1):c.1817C>T (p.Pro606Leu) rs151066293 0.00001
NM_001851.6(COL9A1):c.194T>C (p.Val65Ala) rs371407785 0.00001
NM_001851.6(COL9A1):c.2106G>A (p.Lys702=) rs774146890 0.00001
NM_001851.6(COL9A1):c.2158C>T (p.Arg720Trp) rs750991236 0.00001
NM_001851.6(COL9A1):c.2243G>T (p.Gly748Val) rs368781924 0.00001
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser) rs774610828 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.2582-3C>T rs760704462 0.00001
NM_001851.6(COL9A1):c.2590G>A (p.Gly864Ser) rs745421286 0.00001
NM_001851.6(COL9A1):c.558C>T (p.Gly186=) rs190204582 0.00001
NM_001851.6(COL9A1):c.567G>T (p.Arg189Ser) rs1296736202 0.00001
NM_001851.6(COL9A1):c.604G>A (p.Glu202Lys) rs779384045 0.00001
NM_001851.6(COL9A1):c.624A>G (p.Pro208=) rs1554247859 0.00001
NM_001851.6(COL9A1):c.806G>T (p.Gly269Val) rs752119760 0.00001
NM_001851.6(COL9A1):c.809C>A (p.Pro270His) rs1032154290 0.00001
NM_001851.6(COL9A1):c.*241_*242dup rs3215859
NM_001851.6(COL9A1):c.*242del rs3215859
NM_001851.6(COL9A1):c.*242dup rs3215859
NM_001851.6(COL9A1):c.1029+170del rs201080821
NM_001851.6(COL9A1):c.1030-104del rs34897704
NM_001851.6(COL9A1):c.1030-166del rs35211615
NM_001851.6(COL9A1):c.1040G>T (p.Gly347Val) rs764474418
NM_001851.6(COL9A1):c.1065+74TATT[10] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[11] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[5] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[7] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[9] rs71309305
NM_001851.6(COL9A1):c.1065+74_1065+75insTTTTTTTATTTA rs763708723
NM_001851.6(COL9A1):c.1066-238del rs34456949
NM_001851.6(COL9A1):c.1089+11C>T rs1554243437
NM_001851.6(COL9A1):c.1089+173_1089+176del rs746896336
NM_001851.6(COL9A1):c.1093C>T (p.Pro365Ser) rs2127590823
NM_001851.6(COL9A1):c.1198-223G>A rs6914074
NM_001851.6(COL9A1):c.1218T>G (p.Asp406Glu) rs909640170
NM_001851.6(COL9A1):c.1225C>A (p.Pro409Thr) rs924516350
NM_001851.6(COL9A1):c.1230+53C>A rs549742
NM_001851.6(COL9A1):c.1230+53C>T rs549742
NM_001851.6(COL9A1):c.1230+5G>C rs990543556
NM_001851.6(COL9A1):c.1266T>A (p.Tyr422Ter) rs868122313
NM_001851.6(COL9A1):c.1288-117A>G rs3818575
NM_001851.6(COL9A1):c.1341+4A>G rs1772040993
NM_001851.6(COL9A1):c.1342-27C>T rs77621199
NM_001851.6(COL9A1):c.1342-27CTTTT[3] rs543377381
NM_001851.6(COL9A1):c.1355A>G (p.Asp452Gly) rs2127583225
NM_001851.6(COL9A1):c.135A>G (p.Pro45=) rs750588718
NM_001851.6(COL9A1):c.1395+133C>T rs12194091
NM_001851.6(COL9A1):c.1396-138TA[7] rs561603196
NM_001851.6(COL9A1):c.1396-6T>C rs1360782538
NM_001851.6(COL9A1):c.1396-88T>C rs12210870
NM_001851.6(COL9A1):c.1449+108del rs34147259
NM_001851.6(COL9A1):c.1449+91dup rs34147259
NM_001851.6(COL9A1):c.1450-228A>T rs1711728
NM_001851.6(COL9A1):c.1450-229_1450-228del rs542296705
NM_001851.6(COL9A1):c.1450-231_1450-228del rs542296705
NM_001851.6(COL9A1):c.1450-232_1450-228del rs542296705
NM_001851.6(COL9A1):c.1450-255dup rs542296705
NM_001851.6(COL9A1):c.15-131del rs202054376
NM_001851.6(COL9A1):c.15-132_15-131del rs202054376
NM_001851.6(COL9A1):c.15-139_15-131del rs202054376
NM_001851.6(COL9A1):c.15-153_15-149dup rs202054376
NM_001851.6(COL9A1):c.15-153_15-152dup rs202054376
NM_001851.6(COL9A1):c.15-153dup rs202054376
NM_001851.6(COL9A1):c.1503+37dup rs34557832
NM_001851.6(COL9A1):c.1503+49del rs34557832
NM_001851.6(COL9A1):c.1508A>G (p.Asp503Gly)
NM_001851.6(COL9A1):c.1546A>G (p.Lys516Glu) rs1064796345
NM_001851.6(COL9A1):c.1557+6T>C rs1057518423
NM_001851.6(COL9A1):c.15G>T (p.Trp5Cys) rs746596955
NM_001851.6(COL9A1):c.166+50dup rs371900114
NM_001851.6(COL9A1):c.166+60del rs371900114
NM_001851.6(COL9A1):c.1665+13A>T rs748805630
NM_001851.6(COL9A1):c.1708C>T (p.Gln570Ter) rs1562305261
NM_001851.6(COL9A1):c.171del (p.Phe57fs) rs1554248926
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.1765-21G>A rs2274584
NM_001851.6(COL9A1):c.1808C>T (p.Ser603Leu) rs2127574590
NM_001851.6(COL9A1):c.186G>C (p.Gln62His)
NM_001851.6(COL9A1):c.1952C>A (p.Pro651His) rs139305174
NM_001851.6(COL9A1):c.2034+13_2034+15del rs746643692
NM_001851.6(COL9A1):c.2034+19T>C rs13202029
NM_001851.6(COL9A1):c.2034+19T>G rs13202029
NM_001851.6(COL9A1):c.2034+243C>G rs77858709
NM_001851.6(COL9A1):c.2035-161del rs11286026
NM_001851.6(COL9A1):c.2036G>A (p.Gly679Asp) rs2127564614
NM_001851.6(COL9A1):c.2079+59TA[7] rs10686639
NM_001851.6(COL9A1):c.2079+80_2079+81del rs200426063
NM_001851.6(COL9A1):c.2079+94_2079+95insTGTATA rs10587444
NM_001851.6(COL9A1):c.2079+95AT[10] rs57686729
NM_001851.6(COL9A1):c.2079+95AT[7] rs57686729
NM_001851.6(COL9A1):c.2112+105dup rs34540808
NM_001851.6(COL9A1):c.2112+115del rs34540808
NM_001851.6(COL9A1):c.2113-4C>T rs1554234147
NM_001851.6(COL9A1):c.2183C>T (p.Pro728Leu) rs1029245584
NM_001851.6(COL9A1):c.2232C>T (p.Thr744=) rs751249539
NM_001851.6(COL9A1):c.2260-1G>A rs1322829123
NM_001851.6(COL9A1):c.2314+227_2314+230dup rs55719911
NM_001851.6(COL9A1):c.2314+233_2314+234insTTTG rs71771132
NM_001851.6(COL9A1):c.2314+239_2314+240insTTTTT rs1376237848
NM_001851.6(COL9A1):c.2314+282AC[10] rs71538408
NM_001851.6(COL9A1):c.2314+282AC[12] rs71538408
NM_001851.6(COL9A1):c.2315-186A>C rs642635
NM_001851.6(COL9A1):c.2406C>A (p.Gly802=) rs770705023
NM_001851.6(COL9A1):c.252G>T (p.Gln84His) rs1208726729
NM_001851.6(COL9A1):c.2546G>A (p.Gly849Asp) rs1769199680
NM_001851.6(COL9A1):c.2605G>C (p.Gly869Arg) rs2127544130
NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly) rs200829297
NM_001851.6(COL9A1):c.2630G>A (p.Arg877Gln) rs1408064118
NM_001851.6(COL9A1):c.2671C>T (p.Pro891Ser) rs763970167
NM_001851.6(COL9A1):c.2684C>T (p.Pro895Leu) rs758916884
NM_001851.6(COL9A1):c.300-67del rs3840415
NM_001851.6(COL9A1):c.397A>T (p.Ile133Phe)
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
NM_001851.6(COL9A1):c.559G>A (p.Val187Met) rs773143381
NM_001851.6(COL9A1):c.560T>G (p.Val187Gly) rs2127605012
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001851.6(COL9A1):c.583T>C (p.Phe195Leu)
NM_001851.6(COL9A1):c.594C>T (p.Cys198=) rs367745745
NM_001851.6(COL9A1):c.780+14C>G rs917108673
NM_001851.6(COL9A1):c.802-4C>T rs370569186
NM_001851.6(COL9A1):c.832G>T (p.Gly278Trp) rs1224223702
NM_001851.6(COL9A1):c.876+77_876+78dup rs34962262
NM_001851.6(COL9A1):c.876+77dup rs34962262
NM_001851.6(COL9A1):c.876+89del rs34962262
NM_001851.6(COL9A1):c.89-91ATT[7] rs959164999
NM_001851.6(COL9A1):c.902dup (p.Pro306fs) rs771382737
NM_001851.6(COL9A1):c.959G>A (p.Gly320Asp) rs187291813
NM_001851.6(COL9A1):c.975+72dup rs67240674
NM_001851.6(COL9A1):c.976-3T>G rs2127592930

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.