ClinVar Miner

List of variants in gene COL9A2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.847-277T>G rs364281 0.73397
NM_001852.4(COL9A2):c.364-58T>C rs209918 0.31411
NM_001852.4(COL9A2):c.150+85T>G rs115504008 0.30923
NM_001852.4(COL9A2):c.150+86del rs111700365 0.30887
NM_001852.4(COL9A2):c.977A>G (p.Gln326Arg) rs2228564 0.29671
NM_001852.4(COL9A2):c.630+13G>T rs3737815 0.14424
NM_001852.4(COL9A2):c.76-277A>G rs12132506 0.13436
NM_001852.4(COL9A2):c.1009-114G>C rs2076696 0.13254
NM_001852.4(COL9A2):c.250-111G>A rs72944930 0.10959
NM_001852.4(COL9A2):c.1009-135C>G rs2281399 0.10951
NM_001852.4(COL9A2):c.1161+41C>T rs72944910 0.10729
NM_001852.4(COL9A2):c.847-164G>A rs72944918 0.10608
NM_001852.4(COL9A2):c.249+36C>A rs2273195 0.10565
NM_001852.4(COL9A2):c.1108-229A>G rs193181542 0.09848
NM_001852.4(COL9A2):c.1003C>G (p.Leu335Val) rs2228567 0.09793
NM_001852.4(COL9A2):c.1108-261G>A rs113784463 0.08896
NM_001852.4(COL9A2):c.364-20A>G rs78091688 0.08404
NM_001852.4(COL9A2):c.631-74G>A rs72944928 0.07950
NM_001852.4(COL9A2):c.1548+28C>A rs76810153 0.07396
NM_001852.4(COL9A2):c.1604-144G>A rs3737819 0.07376
NM_001852.4(COL9A2):c.1793-17T>C rs6674856 0.07350
NM_001852.4(COL9A2):c.1368+16A>G rs6684531 0.07104
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_001852.4(COL9A2):c.1402-61C>A rs115320560 0.05362
NM_001852.4(COL9A2):c.1870+58T>C rs75924208 0.05211
NM_001852.4(COL9A2):c.1368+12G>A rs112370406 0.05200
NM_001852.4(COL9A2):c.*122T>C rs2229827 0.04619
NM_001852.4(COL9A2):c.*236G>A rs41480445 0.04618
NM_001852.4(COL9A2):c.901-86C>A rs75996151 0.04606
NM_001852.4(COL9A2):c.1870+92C>T rs74541133 0.04604
NM_001852.4(COL9A2):c.738+10T>C rs56326652 0.04354
NM_001852.4(COL9A2):c.954+86G>A rs2075560 0.04339
NM_001852.4(COL9A2):c.685-65A>T rs3737818 0.04146
NM_001852.4(COL9A2):c.1792+17G>A rs12038020 0.04125
NM_001852.4(COL9A2):c.976C>T (p.Gln326Ter) rs12077871 0.04036
NM_001852.4(COL9A2):c.1054-132T>C rs6688704 0.04012
NM_001852.4(COL9A2):c.1062G>A (p.Pro354=) rs6676013 0.03985
NM_001852.4(COL9A2):c.792+16C>T rs77550258 0.03883
NM_001852.4(COL9A2):c.150+111C>G rs139561954 0.02923
NM_001852.4(COL9A2):c.1161+10T>A rs117563156 0.02847
NM_001852.4(COL9A2):c.1287+82G>A rs116231529 0.02846
NM_001852.4(COL9A2):c.847-312T>C rs74068391 0.02804
NM_001852.4(COL9A2):c.1288-12C>T rs77695700 0.02575
NM_001852.4(COL9A2):c.792+24C>T rs209916 0.02570
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_001852.4(COL9A2):c.684+146A>G rs115789738 0.02379
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
NM_001852.4(COL9A2):c.1603+76G>A rs77215057 0.02011
NM_001852.4(COL9A2):c.1792+102C>T rs117337557 0.01805
NM_001852.4(COL9A2):c.630+74G>A rs3737816 0.01774
NM_001852.4(COL9A2):c.2001C>T (p.Ala667=) rs2229826 0.01771
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_001852.4(COL9A2):c.1792+55C>T rs117728155 0.01660
NM_001852.4(COL9A2):c.846+276T>C rs209915 0.01564
NM_001852.4(COL9A2):c.1323+24C>T rs146731672 0.01436
NM_001852.4(COL9A2):c.1548+17G>C rs74366749 0.01207
NM_001852.4(COL9A2):c.249+193C>A rs113254139 0.00871
NM_001852.4(COL9A2):c.544A>G (p.Met182Val) rs113549021 0.00866
NM_001852.4(COL9A2):c.1870+147G>A rs149823112 0.00699
NM_001852.4(COL9A2):c.1150A>C (p.Met384Leu) rs145327896 0.00631
NM_001852.4(COL9A2):c.1792+191G>A rs115127789 0.00613
NM_001852.4(COL9A2):c.1053+7C>T rs79627294 0.00587
NM_001852.4(COL9A2):c.1548+155C>T rs142298117 0.00585
NM_001852.4(COL9A2):c.364-136G>C rs56001062 0.00529
NM_001852.4(COL9A2):c.417+22T>C rs74068393 0.00527
NM_001852.4(COL9A2):c.364-67C>T rs60635892 0.00520
NM_001852.4(COL9A2):c.1793-257T>C rs145473000 0.00510
NM_001852.4(COL9A2):c.76-39A>G rs11805881 0.00508
NM_001852.4(COL9A2):c.418-122G>A rs209917 0.00473
NM_001852.4(COL9A2):c.363+20G>A rs140071740 0.00434
NM_001852.4(COL9A2):c.1870+9T>C rs139929272 0.00406
NM_001852.4(COL9A2):c.1009-164C>T rs114101487 0.00393
NM_001852.4(COL9A2):c.1323+18T>G rs186166446 0.00363
NM_001852.4(COL9A2):c.1216-34T>C rs74640710 0.00362
NM_001852.4(COL9A2):c.31C>T (p.Leu11Phe) rs74506933 0.00361
NM_001852.4(COL9A2):c.1108-228A>G rs1171933204 0.00336
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_001852.4(COL9A2):c.1162-52G>T rs77529906 0.00228
NM_001852.4(COL9A2):c.1054-47G>A rs140859262 0.00210
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524 0.00205
NM_001852.4(COL9A2):c.562C>A (p.Leu188Met) rs139455364 0.00204
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_001852.4(COL9A2):c.1604-44C>T rs3737820 0.00184
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_001852.4(COL9A2):c.250-7T>C rs146943340 0.00165
NM_001852.4(COL9A2):c.1480C>T (p.Pro494Ser) rs202143849 0.00133
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170 0.00111
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00110
NM_001852.4(COL9A2):c.151-8T>C rs144162904 0.00105
NM_001852.4(COL9A2):c.-37G>C rs376809219 0.00102
NM_001852.4(COL9A2):c.151-42T>C rs2273197 0.00099
NM_001852.4(COL9A2):c.775G>A (p.Gly259Ser) rs148362133 0.00093
NM_001852.4(COL9A2):c.364-13C>T rs201709352 0.00090
NM_001852.4(COL9A2):c.-11del rs757956892 0.00073
NM_001852.4(COL9A2):c.1621G>A (p.Ala541Thr) rs200325312 0.00069
NM_001852.4(COL9A2):c.-43G>A rs373454857 0.00062
NM_001852.4(COL9A2):c.304-14C>T rs180908956 0.00054
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) rs77937237 0.00051
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu) rs200290031 0.00046
NM_001852.4(COL9A2):c.376C>A (p.Pro126Thr) rs146903539 0.00043
NM_001852.4(COL9A2):c.1162-3C>T rs368209124 0.00031
NM_001852.4(COL9A2):c.1824A>G (p.Glu608=) rs138949427 0.00030
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_001852.4(COL9A2):c.-32C>T rs372337925 0.00023
NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg) rs142151614 0.00022
NM_001852.4(COL9A2):c.249+19G>A rs117844512 0.00021
NM_001852.4(COL9A2):c.1962G>T (p.Leu654=) rs142867960 0.00019
NM_001852.4(COL9A2):c.1049A>G (p.Asp350Gly) rs765020486 0.00013
NM_001852.4(COL9A2):c.231C>T (p.Asp77=) rs372936826 0.00013
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser) rs375150574 0.00012
NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met) rs567504204 0.00011
NM_001852.4(COL9A2):c.2036G>A (p.Arg679His) rs199897562 0.00011
NM_001852.4(COL9A2):c.1018G>A (p.Gly340Ser) rs753194894 0.00009
NM_001852.4(COL9A2):c.1188G>A (p.Val396=) rs201054854 0.00009
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala) rs528002132 0.00009
NM_001852.4(COL9A2):c.694G>A (p.Gly232Ser) rs139013993 0.00008
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
NM_001852.4(COL9A2):c.1010G>C (p.Gly337Ala) rs199502479 0.00007
NM_001852.4(COL9A2):c.1061C>T (p.Pro354Leu) rs201772619 0.00007
NM_001852.4(COL9A2):c.1282G>C (p.Asp428His) rs375240237 0.00007
NM_001852.4(COL9A2):c.185C>T (p.Pro62Leu) rs767523458 0.00007
NM_001852.4(COL9A2):c.768C>T (p.Gly256=) rs150444024 0.00007
NM_001852.4(COL9A2):c.843C>T (p.Asp281=) rs140305893 0.00007
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174 0.00006
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) rs565855414 0.00006
NM_001852.4(COL9A2):c.1871-8G>T rs372902486 0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956 0.00006
NM_001852.4(COL9A2):c.232G>A (p.Gly78Arg) rs376722979 0.00006
NM_001852.4(COL9A2):c.407G>A (p.Arg136Gln) rs751212530 0.00005
NM_001852.4(COL9A2):c.629C>T (p.Pro210Leu) rs199831035 0.00005
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser) rs370064150 0.00005
NM_001852.4(COL9A2):c.1421C>T (p.Pro474Leu) rs764750434 0.00004
NM_001852.4(COL9A2):c.142G>C (p.Gly48Arg) rs887364532 0.00004
NM_001852.4(COL9A2):c.1652C>T (p.Ala551Val) rs779917331 0.00004
NM_001852.4(COL9A2):c.1918C>T (p.Arg640Ter) rs747162216 0.00004
NM_001852.4(COL9A2):c.443C>T (p.Ser148Leu) rs745373699 0.00004
NM_001852.4(COL9A2):c.792G>A (p.Pro264=) rs764969929 0.00004
NM_001852.4(COL9A2):c.10G>A (p.Ala4Thr) rs201243011 0.00003
NM_001852.4(COL9A2):c.1599G>T (p.Leu533=) rs142974512 0.00003
NM_001852.4(COL9A2):c.1637G>A (p.Arg546Gln) rs754945201 0.00003
NM_001852.4(COL9A2):c.186G>A (p.Pro62=) rs1085307973 0.00003
NM_001852.4(COL9A2):c.1870+5G>C rs372342860 0.00003
NM_001852.4(COL9A2):c.741C>A (p.Gly247=) rs747133313 0.00003
NM_001852.4(COL9A2):c.847-8C>T rs369411930 0.00003
NM_001852.4(COL9A2):c.1287+5C>T rs997566626 0.00002
NM_001852.4(COL9A2):c.1740C>T (p.Gly580=) rs768037464 0.00002
NM_001852.4(COL9A2):c.303+18G>C rs760684403 0.00002
NM_001852.4(COL9A2):c.577-18C>T rs779055482 0.00002
NM_001852.4(COL9A2):c.1216-11T>C rs752880403 0.00001
NM_001852.4(COL9A2):c.1306G>A (p.Gly436Arg) rs1316869117 0.00001
NM_001852.4(COL9A2):c.1310C>G (p.Pro437Arg) rs777717075 0.00001
NM_001852.4(COL9A2):c.1569G>C (p.Gln523His) rs769009288 0.00001
NM_001852.4(COL9A2):c.1603+1G>A rs1322708706 0.00001
NM_001852.4(COL9A2):c.1831C>T (p.Arg611Trp) rs531953673 0.00001
NM_001852.4(COL9A2):c.1859C>T (p.Pro620Leu) rs774470944 0.00001
NM_001852.4(COL9A2):c.1901A>G (p.Asn634Ser) rs769578991 0.00001
NM_001852.4(COL9A2):c.1925C>A (p.Ser642Tyr) rs780045313 0.00001
NM_001852.4(COL9A2):c.1980G>A (p.Leu660=) rs765050254 0.00001
NM_001852.4(COL9A2):c.240C>T (p.Pro80=) rs372016237 0.00001
NM_001852.4(COL9A2):c.460C>T (p.Pro154Ser) rs375685025 0.00001
NM_001852.4(COL9A2):c.472-15C>T rs774659154 0.00001
NM_001852.4(COL9A2):c.541G>A (p.Gly181Arg) rs761837402 0.00001
NM_001852.4(COL9A2):c.550G>A (p.Gly184Ser) rs1374069257 0.00001
NM_001852.4(COL9A2):c.584C>T (p.Ala195Val) rs764157850 0.00001
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala) rs1202213496 0.00001
NM_001852.4(COL9A2):c.844G>A (p.Glu282Lys) rs767307495 0.00001
NM_001852.4(COL9A2):c.847-10C>T rs766358117 0.00001
NM_001852.4(COL9A2):c.900G>C (p.Thr300=) rs752584833 0.00001
NM_001852.4(COL9A2):c.972G>A (p.Ala324=) rs369479941 0.00001
NC_000001.11:g.40317342G>A rs114673249
NM_001852.4(COL9A2):c.-2C>T
NM_001852.4(COL9A2):c.-7G>A rs768499491
NM_001852.4(COL9A2):c.1007C>T (p.Ala336Val) rs150075912
NM_001852.4(COL9A2):c.1008+138G>C rs140782905
NM_001852.4(COL9A2):c.1054-107G>T rs6676129
NM_001852.4(COL9A2):c.1054-15A>G rs774104069
NM_001852.4(COL9A2):c.1088C>T (p.Ser363Phe)
NM_001852.4(COL9A2):c.1108-214GAAA[2] rs201176527
NM_001852.4(COL9A2):c.1108-214_1108-212del rs202104002
NM_001852.4(COL9A2):c.1124G>C (p.Arg375Pro) rs370682522
NM_001852.4(COL9A2):c.1124G>T (p.Arg375Leu) rs370682522
NM_001852.4(COL9A2):c.1240_1258dup (p.Gln420fs) rs1490502664
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1273G>A (p.Val425Ile) rs148912050
NM_001852.4(COL9A2):c.1323+19G>A rs1553182741
NM_001852.4(COL9A2):c.1324-4_1324-3delinsAA rs2124050043
NM_001852.4(COL9A2):c.1345C>T (p.Leu449Phe) rs758422442
NM_001852.4(COL9A2):c.1401+13C>T rs1553182640
NM_001852.4(COL9A2):c.1401+44_1401+45insCCCCTCCCTTCTCCCGGCC rs376619823
NM_001852.4(COL9A2):c.1421C>A (p.Pro474His) rs764750434
NM_001852.4(COL9A2):c.1447G>A (p.Ala483Thr)
NM_001852.4(COL9A2):c.145A>G (p.Ile49Val)
NM_001852.4(COL9A2):c.1485del (p.Gly496fs) rs761748258
NM_001852.4(COL9A2):c.1485dup (p.Gly496fs) rs761748258
NM_001852.4(COL9A2):c.150+224C>T rs1846158
NM_001852.4(COL9A2):c.1506del (p.Asn503fs) rs1040081238
NM_001852.4(COL9A2):c.1511G>A (p.Arg504Gln) rs1446438792
NM_001852.4(COL9A2):c.1553G>T (p.Arg518Leu) rs200949058
NM_001852.4(COL9A2):c.1585G>A (p.Ala529Thr) rs2124043341
NM_001852.4(COL9A2):c.1604-26CTCC[4] rs3831927
NM_001852.4(COL9A2):c.1604-26CTCC[5] rs3831927
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001852.4(COL9A2):c.1604-3C>A rs2124041473
NM_001852.4(COL9A2):c.1604-8_1604-7insCTCT rs1189471124
NM_001852.4(COL9A2):c.1655T>C (p.Val552Ala) rs1569700165
NM_001852.4(COL9A2):c.1665G>A (p.Met555Ile) rs1553182338
NM_001852.4(COL9A2):c.1702G>A (p.Gly568Ser)
NM_001852.4(COL9A2):c.1743del (p.Pro582fs) rs1643931866
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met) rs202153520
NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu) rs202153520
NM_001852.4(COL9A2):c.1793-239_1793-238del rs10555215
NM_001852.4(COL9A2):c.1793-9T>A rs778874959
NM_001852.4(COL9A2):c.1870+119del rs150450056
NM_001852.4(COL9A2):c.1902C>T (p.Asn634=) rs781428852
NM_001852.4(COL9A2):c.1919G>A (p.Arg640Gln)
NM_001852.4(COL9A2):c.2048C>T (p.Pro683Leu) rs1476528021
NM_001852.4(COL9A2):c.231C>A (p.Asp77Glu) rs372936826
NM_001852.4(COL9A2):c.290T>A (p.Ile97Asn)
NM_001852.4(COL9A2):c.303+26G>A rs1983658
NM_001852.4(COL9A2):c.303+26G>C rs1983658
NM_001852.4(COL9A2):c.364-115dup rs34036643
NM_001852.4(COL9A2):c.364-16A>C rs1979785
NM_001852.4(COL9A2):c.364-16A>G rs1979785
NM_001852.4(COL9A2):c.417+7C>T rs1553184232
NM_001852.4(COL9A2):c.41TCC[1] (p.Leu15del) rs764658749
NM_001852.4(COL9A2):c.480G>A (p.Pro160=) rs745522018
NM_001852.4(COL9A2):c.519+32_519+33del rs534817721
NM_001852.4(COL9A2):c.519+39del rs137881116
NM_001852.4(COL9A2):c.723del (p.Lys243fs) rs1376330691
NM_001852.4(COL9A2):c.747T>G (p.His249Gln) rs747499674
NM_001852.4(COL9A2):c.757G>A (p.Gly253Ser)
NM_001852.4(COL9A2):c.863G>A (p.Arg288His) rs771823937
NM_001852.4(COL9A2):c.902G>A (p.Gly301Asp) rs372191928

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