ClinVar Miner

List of variants in gene COL9A1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.14+132G>A rs117734911 0.02830
NM_001851.6(COL9A1):c.1764+273A>T rs75073449 0.02624
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.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.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.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.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.1720-11T>C rs374054294 0.00081
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
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.1368C>T (p.Leu456=) rs140761349 0.00053
NM_001851.6(COL9A1):c.1569T>A (p.Gly523=) rs150970524 0.00027
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.1665+5G>T rs369698214 0.00011
NM_001851.6(COL9A1):c.1992T>G (p.Gly664=) rs138810927 0.00011
NM_001851.6(COL9A1):c.780+7C>A rs370822868 0.00011
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val) rs186444567 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.1620A>G (p.Pro540=) rs199559331 0.00006
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.2721C>T (p.Thr907=) rs567606245 0.00003
NM_001851.6(COL9A1):c.83G>A (p.Arg28His) rs778243284 0.00003
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.2260-20T>C rs778775136 0.00002
NM_001851.6(COL9A1):c.1002T>A (p.Pro334=) rs1057523730 0.00001
NM_001851.6(COL9A1):c.1143+48G>T rs559085408 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.2106G>A (p.Lys702=) rs774146890 0.00001
NM_001851.6(COL9A1):c.2582-3C>T rs760704462 0.00001
NM_001851.6(COL9A1):c.558C>T (p.Gly186=) rs190204582 0.00001
NM_001851.6(COL9A1):c.624A>G (p.Pro208=) rs1554247859 0.00001
NM_001851.6(COL9A1):c.*242del rs3215859
NM_001851.6(COL9A1):c.1065+74TATT[11] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[5] rs71309305
NM_001851.6(COL9A1):c.1065+74_1065+75insTTTTTTTATTTA rs763708723
NM_001851.6(COL9A1):c.1089+11C>T rs1554243437
NM_001851.6(COL9A1):c.1089+173_1089+176del rs746896336
NM_001851.6(COL9A1):c.1288-117A>G rs3818575
NM_001851.6(COL9A1):c.1342-27CTTTT[3] rs543377381
NM_001851.6(COL9A1):c.135A>G (p.Pro45=) rs750588718
NM_001851.6(COL9A1):c.1396-138TA[7] rs561603196
NM_001851.6(COL9A1):c.1450-229_1450-228del rs542296705
NM_001851.6(COL9A1):c.1450-255dup rs542296705
NM_001851.6(COL9A1):c.15-131del rs202054376
NM_001851.6(COL9A1):c.15-153_15-149dup rs202054376
NM_001851.6(COL9A1):c.15-153_15-152dup rs202054376
NM_001851.6(COL9A1):c.166+60del rs371900114
NM_001851.6(COL9A1):c.1665+13A>T rs748805630
NM_001851.6(COL9A1):c.2034+13_2034+15del rs746643692
NM_001851.6(COL9A1):c.2079+80_2079+81del rs200426063
NM_001851.6(COL9A1):c.2113-4C>T rs1554234147
NM_001851.6(COL9A1):c.2232C>T (p.Thr744=) rs751249539
NM_001851.6(COL9A1):c.2406C>A (p.Gly802=) rs770705023
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.89-91ATT[7] rs959164999

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