ClinVar Miner

List of variants in gene COL11A1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2295+37A>T rs2622867 0.91369
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486 0.81716
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347 0.64340
NM_001854.4(COL11A1):c.2611-19A>C rs11164649 0.57301
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783 0.49335
NM_001854.4(COL11A1):c.274+42G>C rs11164662 0.48053
NM_001854.4(COL11A1):c.2656-28T>C rs1903787 0.32791
NM_001854.4(COL11A1):c.3168+41T>C rs1012282 0.29091
NM_001854.4(COL11A1):c.488+23G>A rs6668897 0.14061
NM_001854.4(COL11A1):c.275-7T>C rs12136865 0.14046
NM_001854.4(COL11A1):c.4608+18A>G rs17127203 0.12045
NM_001854.4(COL11A1):c.4303-47T>C rs11164634 0.11796
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966 0.11088
NM_001854.4(COL11A1):c.1998+4T>A rs12136577 0.10860
NM_001854.4(COL11A1):c.3978+38T>G rs28648038 0.09396
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663 0.08714
NM_001854.4(COL11A1):c.1308+19A>G rs34587338 0.08015
NM_001854.4(COL11A1):c.3025-23A>T rs55682104 0.07912
NM_001854.4(COL11A1):c.3168+15A>G rs1012281 0.05717
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_001854.4(COL11A1):c.1413+18A>T rs17461252 0.04131
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_001854.4(COL11A1):c.1944+11T>C rs71664954 0.02235
NM_001854.4(COL11A1):c.651+16A>G rs116303092 0.01555
NM_001854.4(COL11A1):c.3924+19C>T rs77901108 0.01456
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519 0.01140
NM_001854.4(COL11A1):c.2097+18C>A rs75124465 0.01139
NM_001854.4(COL11A1):c.3169-16T>C rs76379510 0.00976
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421 0.00956
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00897
NM_001854.4(COL11A1):c.3817-5T>C rs201155391 0.00566
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=) rs143606220 0.00382
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_001854.4(COL11A1):c.3817-17_3817-16insC rs773173330 0.00300
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197 0.00274
NM_001854.4(COL11A1):c.4302+48A>T rs114611626 0.00272
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745 0.00267
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_001854.4(COL11A1):c.4140+13T>A rs374901069 0.00214
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_001854.4(COL11A1):c.3024+13T>C rs201141572 0.00172
NM_001854.4(COL11A1):c.*17A>G rs190728953 0.00152
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_001854.4(COL11A1):c.3925-16C>T rs201491791 0.00099
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=) rs138691968 0.00097
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_001854.4(COL11A1):c.3384+18G>A rs200425985 0.00066
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_001854.4(COL11A1):c.990+7C>T rs137867554 0.00036
NM_001854.4(COL11A1):c.-50A>G rs369810404 0.00026
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_001854.4(COL11A1):c.2295+6G>A rs372529718 0.00016
NM_001854.4(COL11A1):c.4032+18T>C rs190625412 0.00015
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979 0.00014
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_001854.4(COL11A1):c.3438+11T>C rs765352070 0.00011
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=) rs369265343 0.00011
NM_001854.4(COL11A1):c.3600+8G>A rs188045535 0.00006
NM_001854.4(COL11A1):c.1683+20C>G rs373143275 0.00005
NM_001854.4(COL11A1):c.2656-20T>C rs886038501 0.00004
NM_001854.4(COL11A1):c.275-14C>T rs370321983 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001854.4(COL11A1):c.4141-8T>A rs373760183 0.00004
NM_001854.4(COL11A1):c.4608+34A>G rs199597559 0.00004
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=) rs371490794 0.00003
NM_001854.4(COL11A1):c.1998+11C>T rs375664445 0.00003
NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=) rs770392400 0.00003
NM_001854.4(COL11A1):c.1309-7G>A rs748684225 0.00002
NM_001854.4(COL11A1):c.3025-6C>T rs780046337 0.00002
NM_001854.4(COL11A1):c.1899+16T>G rs767808576 0.00001
NM_001854.4(COL11A1):c.2556+14A>G rs1365339245 0.00001
NM_001854.4(COL11A1):c.2557-14T>C rs546175264 0.00001
NM_001854.4(COL11A1):c.2808+14C>G rs1015791965 0.00001
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=) rs763588142 0.00001
NM_001854.4(COL11A1):c.4609-8C>A rs777390779 0.00001
NM_001854.4(COL11A1):c.4859-19A>G rs146179957 0.00001
NM_001854.4(COL11A1):c.990+11T>G rs750665036 0.00001
NM_001854.4(COL11A1):c.990+8G>A rs756299328 0.00001
GRCh37/hg19 1p21.1(chr1:103401032-103511235)
GRCh37/hg19 1p21.1(chr1:103474885-103519961)
NM_001854.4(COL11A1):c.106+8A>G
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1309-4A>T
NM_001854.4(COL11A1):c.1573-15T>C rs772291375
NM_001854.4(COL11A1):c.1635G>A (p.Gly545=) rs746478999
NM_001854.4(COL11A1):c.1792-17T>C rs2101851501
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.1945-19C>T rs1571000550
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=) rs530187653
NM_001854.4(COL11A1):c.2143-10dup rs747240373
NM_001854.4(COL11A1):c.2196+11G>A rs1664814779
NM_001854.4(COL11A1):c.2196+17T>C
NM_001854.4(COL11A1):c.2197-10C>T rs1057521170
NM_001854.4(COL11A1):c.2296-19C>T rs776330050
NM_001854.4(COL11A1):c.2340+9_2340+13del rs374301870
NM_001854.4(COL11A1):c.2394+12G>T
NM_001854.4(COL11A1):c.2656-12T>C rs769091234
NM_001854.4(COL11A1):c.2656-4G>T rs1553224423
NM_001854.4(COL11A1):c.2739C>T (p.Gly913=) rs1553224335
NM_001854.4(COL11A1):c.275-17del rs3841819
NM_001854.4(COL11A1):c.2809-19T>C
NM_001854.4(COL11A1):c.2864G>C (p.Gly955Ala)
NM_001854.4(COL11A1):c.3168+9G>A rs1553218164
NM_001854.4(COL11A1):c.3294A>G (p.Gln1098=) rs1553210866
NM_001854.4(COL11A1):c.3365C>A (p.Pro1122His) rs2101304072
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=) rs1553208812
NM_001854.4(COL11A1):c.3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-13dup rs34228277
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.3979-10C>T rs1553200898
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp) rs778331804
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.651+14C>T rs1553252290
NM_001854.4(COL11A1):c.652-11_652-10insTTG rs776283234
NM_001854.4(COL11A1):c.652-17T>G rs555770298
NM_001854.4(COL11A1):c.652-18_652-16dup rs36076089
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089
NM_001854.4(COL11A1):c.81C>T (p.Leu27=) rs1027288806
NM_001854.4(COL11A1):c.828A>T (p.Ala276=) rs764926559
NM_001854.4(COL11A1):c.991-14del rs768258098

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