ClinVar Miner

List of variants in gene COL9A1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 181
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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.1231-141G>A rs78257047 0.02702
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.1999-95C>T rs75139444 0.01663
NM_001851.6(COL9A1):c.2271G>A (p.Pro757=) rs2072650 0.01180
NM_001851.6(COL9A1):c.1656T>C (p.Pro552=) rs80251646 0.00493
NM_001851.6(COL9A1):c.876+6T>C rs73473595 0.00444
NM_001851.6(COL9A1):c.1197+11T>C rs73745357 0.00388
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.1395+14T>A rs367801990 0.00323
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
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.1288-9A>G rs181039243 0.00133
NM_001851.6(COL9A1):c.801+11G>C rs200305129 0.00113
NM_001851.6(COL9A1):c.1720-11T>C rs374054294 0.00081
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.1569T>A (p.Gly523=) rs150970524 0.00027
NM_001851.6(COL9A1):c.1818+7_1818+10dup rs200555682 0.00017
NM_001851.6(COL9A1):c.1066-20T>C rs574015478 0.00015
NM_001851.6(COL9A1):c.1992T>G (p.Gly664=) rs138810927 0.00011
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val) rs186444567 0.00009
NM_001851.6(COL9A1):c.1504-19A>C rs377339892 0.00007
NM_001851.6(COL9A1):c.1065+75A>T rs1033750704 0.00004
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.*241_*242dup 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.1065+74TATT[10] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[7] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[9] rs71309305
NM_001851.6(COL9A1):c.1066-238del rs34456949
NM_001851.6(COL9A1):c.1198-223G>A rs6914074
NM_001851.6(COL9A1):c.1230+53C>A rs549742
NM_001851.6(COL9A1):c.1230+53C>T rs549742
NM_001851.6(COL9A1):c.1287+16C>T
NM_001851.6(COL9A1):c.1342-14dup rs537445397
NM_001851.6(COL9A1):c.1342-16dup rs759288929
NM_001851.6(COL9A1):c.1342-27C>T rs77621199
NM_001851.6(COL9A1):c.1342-27CTTTT[3] rs543377381
NM_001851.6(COL9A1):c.1395+133C>T rs12194091
NM_001851.6(COL9A1):c.1395+20del rs769058356
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.1450-231_1450-228del rs542296705
NM_001851.6(COL9A1):c.1450-232_1450-228del rs542296705
NM_001851.6(COL9A1):c.1450-5dup rs751315083
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.15-153dup rs202054376
NM_001851.6(COL9A1):c.1503+37dup rs34557832
NM_001851.6(COL9A1):c.1503+49del rs34557832
NM_001851.6(COL9A1):c.166+50dup rs371900114
NM_001851.6(COL9A1):c.1665+13A>T rs748805630
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.1765-21G>A rs2274584
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.2079+16del rs552585742
NM_001851.6(COL9A1):c.2079+59TA[7] rs10686639
NM_001851.6(COL9A1):c.2079+7dup rs552585742
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.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.300-67del rs3840415
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.975+72dup rs67240674

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