ClinVar Miner

List of variants in gene COL9A1 studied for not specified

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.1504-32T>G rs633762 0.83978
NM_001851.6(COL9A1):c.1765-26T>C rs519068 0.48558
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro) rs592121 0.46927
NM_001851.6(COL9A1):c.1720-24A>C rs701690 0.42215
NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg) rs1135056 0.38283
NM_001851.6(COL9A1):c.2259+32T>C rs12191701 0.36512
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.1230+12T>C rs6935778 0.15856
NM_001851.6(COL9A1):c.1612-26C>A rs13219431 0.13355
NM_001851.6(COL9A1):c.1071T>C (p.Arg357=) rs607156 0.07381
NM_001851.6(COL9A1):c.1066-36C>A rs77357454 0.04608
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.1504-14T>A rs537940 0.04260
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_001851.6(COL9A1):c.1030-20G>T rs16868897 0.02172
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578 0.01848
NM_001851.6(COL9A1):c.2271G>A (p.Pro757=) rs2072650 0.01180
NM_001851.6(COL9A1):c.1666-32G>A rs72923190 0.00751
NM_001851.6(COL9A1):c.1656T>C (p.Pro552=) rs80251646 0.00493
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.-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.2113-19G>A rs187218937 0.00076
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
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.1569T>A (p.Gly523=) rs150970524 0.00027
NM_001851.6(COL9A1):c.1423G>A (p.Gly475Ser) rs143320197 0.00024
NM_001851.6(COL9A1):c.795C>G (p.Thr265=) rs149067801 0.00019
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.88+19A>C rs188749185 0.00007
NM_001851.6(COL9A1):c.166+5G>A rs544432669 0.00005
NM_001851.6(COL9A1):c.1342-15C>G rs200223246 0.00003
NM_001851.6(COL9A1):c.167-11C>T rs370460481 0.00003
NM_001851.6(COL9A1):c.1404G>A (p.Gln468=) rs371743577 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.166+12T>C rs886038498 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.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.2629C>T (p.Arg877Ter) rs758388716 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.1089+11C>T rs1554243437
NM_001851.6(COL9A1):c.1342-27CTTTT[3] rs543377381
NM_001851.6(COL9A1):c.1557+6T>C rs1057518423
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.2113-4C>T rs1554234147
NM_001851.6(COL9A1):c.2504-11A>G
NM_001851.6(COL9A1):c.348G>A (p.Thr116=) rs779960146
NM_001851.6(COL9A1):c.780+14C>G rs917108673
NM_001851.6(COL9A1):c.913-5C>G rs763816689

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