ClinVar Miner

List of variants in gene COL9A2 studied for bone development disease

Included ClinVar conditions (618):
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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
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.1003C>G (p.Leu335Val) rs2228567 0.09793
NM_001852.4(COL9A2):c.*312T>A rs41466547 0.06828
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
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.*543G>A rs75291055 0.04607
NM_001852.4(COL9A2):c.738+10T>C rs56326652 0.04354
NM_001852.4(COL9A2):c.976C>T (p.Gln326Ter) rs12077871 0.04036
NM_001852.4(COL9A2):c.1062G>A (p.Pro354=) rs6676013 0.03985
NM_001852.4(COL9A2):c.1161+10T>A rs117563156 0.02847
NM_001852.4(COL9A2):c.1288-12C>T rs77695700 0.02575
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
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.544A>G (p.Met182Val) rs113549021 0.00866
NM_001852.4(COL9A2):c.1053+7C>T rs79627294 0.00587
NM_001852.4(COL9A2):c.1870+9T>C rs139929272 0.00406
NM_001852.4(COL9A2):c.1323+18T>G rs186166446 0.00363
NM_001852.4(COL9A2):c.*578C>T rs143152709 0.00347
NM_001852.4(COL9A2):c.*263C>T rs187788913 0.00248
NM_001852.4(COL9A2):c.*111C>T rs114634369 0.00246
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.312C>T (p.Pro104=) rs144072834 0.00195
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.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.1009-12T>G rs200570244 0.00095
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.*67A>G rs553963794 0.00051
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.*370G>A rs548912125 0.00041
NM_001852.4(COL9A2):c.*443C>T rs531591616 0.00035
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) rs115675008 0.00034
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.1834G>A (p.Gly612Arg) rs142151614 0.00022
NM_001852.4(COL9A2):c.*561A>G rs138560646 0.00016
NM_001852.4(COL9A2):c.304-13G>A rs200032742 0.00016
NM_001852.4(COL9A2):c.942G>A (p.Thr314=) rs144615318 0.00016
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.1188G>A (p.Val396=) rs201054854 0.00009
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser) rs201985170 0.00009
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala) rs528002132 0.00009
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
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.*230C>T rs1057515525 0.00006
NM_001852.4(COL9A2):c.*683G>A rs1057515565 0.00006
NM_001852.4(COL9A2):c.-27C>A rs375579300 0.00006
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.230A>C (p.Asp77Ala) rs200737977 0.00005
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.847-9G>A rs201625720 0.00005
NM_001852.4(COL9A2):c.*369C>T rs773649280 0.00004
NM_001852.4(COL9A2):c.142G>C (p.Gly48Arg) rs887364532 0.00004
NM_001852.4(COL9A2):c.*386C>T rs932745561 0.00003
NM_001852.4(COL9A2):c.1599G>T (p.Leu533=) rs142974512 0.00003
NM_001852.4(COL9A2):c.186G>A (p.Pro62=) rs1085307973 0.00003
NM_001852.4(COL9A2):c.741C>A (p.Gly247=) rs747133313 0.00003
NM_001852.4(COL9A2):c.905C>T (p.Pro302Leu) rs369110014 0.00003
NM_001852.4(COL9A2):c.472-10C>A rs372390684 0.00002
NM_001852.4(COL9A2):c.*38G>A rs547105794 0.00001
NM_001852.4(COL9A2):c.1474C>A (p.Pro492Thr) rs1444649342 0.00001
NM_001852.4(COL9A2):c.1609C>T (p.Leu537=) rs1057515453 0.00001
NM_001852.4(COL9A2):c.417+12C>T rs371485028 0.00001
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala) rs1202213496 0.00001
NM_001852.4(COL9A2):c.820G>A (p.Gly274Ser) rs1443766012 0.00001
NM_001852.4(COL9A2):c.846+10C>T rs1045951380 0.00001
NM_001852.4(COL9A2):c.900G>C (p.Thr300=) rs752584833 0.00001
NM_001852.4(COL9A2):c.*322G>A rs1057515566
NM_001852.4(COL9A2):c.*405G>A rs1643903443
NM_001852.4(COL9A2):c.1009-2A>C rs2124065362
NM_001852.4(COL9A2):c.1054-15A>G rs774104069
NM_001852.4(COL9A2):c.1107+1G>T rs2124062571
NM_001852.4(COL9A2):c.1124G>T (p.Arg375Leu) rs370682522
NM_001852.4(COL9A2):c.1162-7A>G rs557381059
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1242dup (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1323+14C>A rs568467832
NM_001852.4(COL9A2):c.1342G>A (p.Gly448Ser) rs2124049861
NM_001852.4(COL9A2):c.1485del (p.Gly496fs) rs761748258
NM_001852.4(COL9A2):c.1506del (p.Asn503fs) rs1040081238
NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter) rs781682527
NM_001852.4(COL9A2):c.1535G>A (p.Arg512Lys) rs1057515562
NM_001852.4(COL9A2):c.1555G>C (p.Asp519His) rs901123053
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu) rs202153520
NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser) rs535212284
NM_001852.4(COL9A2):c.186+2T>C rs1569763139
NM_001852.4(COL9A2):c.186+5G>C rs1569763108
NM_001852.4(COL9A2):c.186G>C (p.Pro62=) rs1085307973
NM_001852.4(COL9A2):c.1902C>T (p.Asn634=) rs781428852
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg) rs150687987
NM_001852.4(COL9A2):c.300C>T (p.Val100=) rs1644152223
NM_001852.4(COL9A2):c.370C>G (p.Pro124Ala) rs1057515526
NM_001852.4(COL9A2):c.843_846+4del rs606231376

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