ClinVar Miner

List of variants in gene COL1A1 reported as benign for Osteogenesis imperfecta type I

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Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2830-33C>G rs2586489 0.99960
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000088.4(COL1A1):c.2028+39C>T rs2857396 0.85962
NM_000088.4(COL1A1):c.1984-41G>A rs2586490 0.69576
NM_000088.4(COL1A1):c.3261+31T>C rs2586488 0.65839
NM_000088.4(COL1A1):c.299-20C>G rs2256835 0.54824
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52554
NM_000088.4(COL1A1):c.2560-18C>G rs2075559 0.50861
NM_000088.4(COL1A1):c.588+33T>C rs35231764 0.23001
NM_000088.4(COL1A1):c.3815-35T>C rs2277632 0.18865
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.14132
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_000088.4(COL1A1):c.642+18A>C rs16948767 0.11584
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) rs1800218 0.04344
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215 0.02714
NC_000017.11:g.50201674G>A rs113647555 0.02290
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=) rs35017779 0.01114
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00793
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00547
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00441
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00324
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) rs144134990 0.00230
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00206
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_000088.4(COL1A1):c.1668+16C>T rs41316659 0.00154
NM_000088.4(COL1A1):c.1057-20T>C rs73338527 0.00146
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00143
NM_000088.4(COL1A1):c.2236-17C>G rs193922146 0.00137
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000088.4(COL1A1):c.642+11T>C rs376087528 0.00116
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00088
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00082
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=) rs113437353 0.00061
NM_000088.4(COL1A1):c.3531+14C>T rs199766533 0.00053
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=) rs142312753 0.00050
NM_000088.4(COL1A1):c.3424-6C>A rs370865189 0.00044
NM_000088.4(COL1A1):c.1984-7C>G rs376886366 0.00043
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074 0.00038
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000088.4(COL1A1):c.2668-12A>G rs200355573 0.00037
NM_000088.4(COL1A1):c.957+17C>T rs370547300 0.00036
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000088.4(COL1A1):c.1461+16C>T rs41316648 0.00034
NM_000088.4(COL1A1):c.3815-18T>C rs373624129 0.00034
NM_000088.4(COL1A1):c.1876-10C>T rs370308401 0.00033
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=) rs143049736 0.00029
NM_000088.4(COL1A1):c.2414C>T (p.Pro805Leu) rs145307365 0.00028
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00028
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu) rs577626107 0.00022
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00021
NM_000088.4(COL1A1):c.957+10C>A rs376179885 0.00020
NM_000088.4(COL1A1):c.2466A>G (p.Gln822=) rs551706871 0.00019
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) rs151328660 0.00018
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00012
NM_000088.4(COL1A1):c.1615-14C>T rs190098788 0.00011
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) rs193922150 0.00011
NM_000088.4(COL1A1):c.1360G>A (p.Val454Ile) rs777589249 0.00010
NM_000088.4(COL1A1):c.1783G>T (p.Ala595Ser) rs376047287 0.00009
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=) rs200145743 0.00008
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) rs774001209 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00005
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) rs750756697 0.00004
NM_000088.4(COL1A1):c.2235+15C>T rs754442679 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.3540C>T (p.Pro1180=) rs146016027 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.4009G>A (p.Glu1337Lys) rs760040029 0.00004
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn) rs191166865 0.00004
NM_000088.4(COL1A1):c.408A>G (p.Gly136=) rs533127847 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.589-18T>G rs775985897 0.00004
NM_000088.4(COL1A1):c.655C>T (p.Pro219Ser) rs868168330 0.00004
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.1341T>A (p.Ala447=) rs376238027 0.00003
NM_000088.4(COL1A1):c.1412C>G (p.Ala471Gly) rs978893604 0.00003
NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly) rs557118570 0.00003
NM_000088.4(COL1A1):c.2176C>A (p.Leu726Ile) rs757175933 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000088.4(COL1A1):c.2779C>T (p.Pro927Ser) rs756537503 0.00003
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile) rs769158560 0.00003
NM_000088.4(COL1A1):c.3665A>G (p.Asn1222Ser) rs751784955 0.00003
NM_000088.4(COL1A1):c.3737G>A (p.Arg1246Gln) rs376524129 0.00003
NM_000088.4(COL1A1):c.3809A>C (p.Lys1270Thr) rs572950705 0.00003
NM_000088.4(COL1A1):c.4347C>T (p.Ala1449=) rs891380309 0.00003
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp) rs778733293 0.00002
NM_000088.4(COL1A1):c.178A>T (p.Ile60Phe) rs544922468 0.00002
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177 0.00002
NM_000088.4(COL1A1):c.622C>G (p.Pro208Ala) rs748282160 0.00002
NM_000088.4(COL1A1):c.6C>T (p.Phe2=) rs776596093 0.00002
NM_000088.4(COL1A1):c.103+16T>G rs548069648 0.00001
NM_000088.4(COL1A1):c.133C>G (p.Leu45Val) rs546629502 0.00001
NM_000088.4(COL1A1):c.1425C>T (p.Pro475=) rs200778332 0.00001
NM_000088.4(COL1A1):c.1811C>A (p.Pro604His) rs374990175 0.00001
NM_000088.4(COL1A1):c.183C>T (p.Cys61=) rs755126464 0.00001
NM_000088.4(COL1A1):c.1984-13C>A rs772638625 0.00001
NM_000088.4(COL1A1):c.200A>G (p.Lys67Arg) rs758395597 0.00001
NM_000088.4(COL1A1):c.2049C>T (p.Gly683=) rs149352055 0.00001
NM_000088.4(COL1A1):c.2141C>T (p.Ala714Val) rs776855573 0.00001
NM_000088.4(COL1A1):c.2274C>T (p.Gly758=) rs200111312 0.00001
NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr) rs780905804 0.00001
NM_000088.4(COL1A1):c.2572G>A (p.Ala858Thr) rs773428245 0.00001
NM_000088.4(COL1A1):c.2617G>A (p.Ala873Thr) rs1457373133 0.00001
NM_000088.4(COL1A1):c.2770C>T (p.Pro924Ser) rs200990242 0.00001
NM_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser) rs794727663 0.00001
NM_000088.4(COL1A1):c.328G>A (p.Val110Ile) rs375823086 0.00001
NM_000088.4(COL1A1):c.3396T>G (p.Ser1132=) rs1234807112 0.00001
NM_000088.4(COL1A1):c.3701C>G (p.Thr1234Ser) rs761711691 0.00001
NM_000088.4(COL1A1):c.393A>T (p.Arg131=) rs768576692 0.00001
NM_000088.4(COL1A1):c.3985A>T (p.Ser1329Cys) rs778077946 0.00001
NM_000088.4(COL1A1):c.4062C>T (p.Phe1354=) rs377703930 0.00001
NM_000088.4(COL1A1):c.4323T>C (p.Asp1441=) rs748650672 0.00001
NM_000088.4(COL1A1):c.4383C>A (p.Val1461=) rs759080989 0.00001
NM_000088.4(COL1A1):c.529G>A (p.Val177Met) rs537060488 0.00001
NM_000088.4(COL1A1):c.1056+12del rs766175536
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1300-12dup rs776544779
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.143A>G (p.His48Arg) rs1273874412
NM_000088.4(COL1A1):c.144T>C (p.His48=) rs374065372
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000088.4(COL1A1):c.2005G>C (p.Ala669Pro) rs563598815
NM_000088.4(COL1A1):c.2043C>A (p.Phe681Leu)
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2284G>A (p.Val762Ile) rs138749826
NM_000088.4(COL1A1):c.2284G>C (p.Val762Leu) rs138749826
NM_000088.4(COL1A1):c.2608C>T (p.Pro870Ser) rs771918127
NM_000088.4(COL1A1):c.2937+13del
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[9] rs138425306
NM_000088.4(COL1A1):c.3598T>C (p.Phe1200Leu)
NM_000088.4(COL1A1):c.370-6del rs35576965
NM_000088.4(COL1A1):c.4081G>C (p.Glu1361Gln) rs141011435
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val) rs754481870
NM_000088.4(COL1A1):c.544-19dup rs1246654267

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