ClinVar Miner

List of variants in gene COL11A1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2556+96C>G rs2615978 0.93854
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.4140+10A>T rs187171126 0.00906
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001854.4(COL11A1):c.4302+48A>T rs114611626 0.00272
NM_001854.4(COL11A1):c.898-185T>C rs138792819 0.00263
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.3277-13A>C rs371455495 0.00116
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.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.652-7T>C rs760697835 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala) rs144966407 0.00037
NM_001854.4(COL11A1):c.990+7C>T rs137867554 0.00036
NM_001854.4(COL11A1):c.652-13T>G rs776608546 0.00020
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429 0.00018
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398 0.00018
NM_001854.4(COL11A1):c.1246-6C>T rs199855455 0.00016
NM_001854.4(COL11A1):c.2295+6G>A rs372529718 0.00016
NM_001854.4(COL11A1):c.3492+3G>A rs372941709 0.00013
NM_001854.4(COL11A1):c.882A>G (p.Thr294=) rs201141662 0.00013
NM_001854.4(COL11A1):c.4380G>A (p.Leu1460=) rs180734278 0.00011
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=) rs369265343 0.00011
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.4087-4A>G rs137999403 0.00009
NM_001854.4(COL11A1):c.456C>T (p.Pro152=) rs751512442 0.00008
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys) rs372387693 0.00007
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_001854.4(COL11A1):c.1833C>T (p.Asp611=) rs757133349 0.00006
NM_001854.4(COL11A1):c.1899+3A>G rs374676938 0.00006
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro) rs775587076 0.00006
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) rs142506188 0.00004
NM_001854.4(COL11A1):c.2656-20T>C rs886038501 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001854.4(COL11A1):c.4608+34A>G rs199597559 0.00004
NM_001854.4(COL11A1):c.1043A>T (p.Tyr348Phe) rs539811607 0.00003
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=) rs375400337 0.00003
NM_001854.4(COL11A1):c.4176C>A (p.Thr1392=) rs750903509 0.00003
NM_001854.4(COL11A1):c.1309-7G>A rs748684225 0.00002
NM_001854.4(COL11A1):c.4761A>G (p.Lys1587=) rs375667862 0.00002
NM_001854.4(COL11A1):c.898-272A>C rs148225616 0.00002
NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala) rs560019202 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3147C>G (p.Pro1049=) rs539284752 0.00001
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=) rs763588142 0.00001
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_001854.4(COL11A1):c.3874C>A (p.Pro1292Thr) rs1271972029 0.00001
NM_001854.4(COL11A1):c.4545A>G (p.Lys1515=) rs575231157 0.00001
NM_001854.4(COL11A1):c.4609-8C>A rs777390779 0.00001
NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=) rs202048103 0.00001
NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg) rs1351190778 0.00001
NM_001854.4(COL11A1):c.792G>A (p.Glu264=) rs755887906 0.00001
NM_001854.4(COL11A1):c.990+8G>A rs756299328 0.00001
NM_001854.4(COL11A1):c.1186C>T (p.Pro396Ser)
NM_001854.4(COL11A1):c.125T>A (p.Leu42Gln)
NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile) rs536428525
NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)
NM_001854.4(COL11A1):c.1791G>A (p.Lys597=)
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.1945-7C>T rs201424786
NM_001854.4(COL11A1):c.1974A>C (p.Gly658=)
NM_001854.4(COL11A1):c.1999-9T>C
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=) rs530187653
NM_001854.4(COL11A1):c.2043+4T>A rs764236870
NM_001854.4(COL11A1):c.2098-4dup rs764570124
NM_001854.4(COL11A1):c.2138A>G (p.Glu713Gly)
NM_001854.4(COL11A1):c.2177C>T (p.Pro726Leu)
NM_001854.4(COL11A1):c.2247C>G (p.Pro749=)
NM_001854.4(COL11A1):c.2340+9_2340+13del rs374301870
NM_001854.4(COL11A1):c.24G>C (p.Trp8Cys)
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val) rs1663311706
NM_001854.4(COL11A1):c.2650C>T (p.Pro884Ser)
NM_001854.4(COL11A1):c.2656-12T>C rs769091234
NM_001854.4(COL11A1):c.2677G>A (p.Ala893Thr)
NM_001854.4(COL11A1):c.2709+1G>A
NM_001854.4(COL11A1):c.2710-7G>A
NM_001854.4(COL11A1):c.275-17del rs3841819
NM_001854.4(COL11A1):c.2862+2_2862+3del
NM_001854.4(COL11A1):c.2862+9C>T
NM_001854.4(COL11A1):c.2886T>C (p.Pro962=)
NM_001854.4(COL11A1):c.2899G>A (p.Gly967Arg)
NM_001854.4(COL11A1):c.2916+1G>A rs2101595036
NM_001854.4(COL11A1):c.2922A>C (p.Pro974=) rs1570881250
NM_001854.4(COL11A1):c.3169-2A>G
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
NM_001854.4(COL11A1):c.3175C>T (p.Pro1059Ser)
NM_001854.4(COL11A1):c.3259G>A (p.Gly1087Arg)
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3385-8A>C
NM_001854.4(COL11A1):c.3397G>A (p.Glu1133Lys)
NM_001854.4(COL11A1):c.3438+2T>C
NM_001854.4(COL11A1):c.3492+1_3492+3del
NM_001854.4(COL11A1):c.3492+9T>A
NM_001854.4(COL11A1):c.3708+436A>G
NM_001854.4(COL11A1):c.3817-14_3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-15_3817-13dup rs34228277
NM_001854.4(COL11A1):c.3980G>A (p.Gly1327Asp)
NM_001854.4(COL11A1):c.4071T>G (p.Gly1357=)
NM_001854.4(COL11A1):c.4176C>T (p.Thr1392=)
NM_001854.4(COL11A1):c.4203A>G (p.Ala1401=)
NM_001854.4(COL11A1):c.4249-3T>C
NM_001854.4(COL11A1):c.4303-1G>C
NM_001854.4(COL11A1):c.4323_4340del (p.Leu1442_Gly1447del)
NM_001854.4(COL11A1):c.4357G>C (p.Gly1453Arg)
NM_001854.4(COL11A1):c.474C>T (p.Asn158=)
NM_001854.4(COL11A1):c.4763A>G (p.Gln1588Arg) rs747648407
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001854.4(COL11A1):c.4878T>C (p.Pro1626=) rs1570618762
NM_001854.4(COL11A1):c.5357dup (p.Asn1786fs)
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001854.4(COL11A1):c.612G>T (p.Thr204=) rs545867472
NM_001854.4(COL11A1):c.652-14T>G
NM_001854.4(COL11A1):c.652-14_652-13insTTG rs1553240902
NM_001854.4(COL11A1):c.652-19G>T rs750425179
NM_001854.4(COL11A1):c.652-8_652-6del
NM_001854.4(COL11A1):c.698A>T (p.Tyr233Phe)
NM_001854.4(COL11A1):c.898-181G>A
NM_001854.4(COL11A1):c.898-193G>A
NM_001854.4(COL11A1):c.898-216G>A
NM_001854.4(COL11A1):c.898-300G>A
NM_001854.4(COL11A1):c.991-32G>A
NM_001854.4(COL11A1):c.991-33T>A

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