ClinVar Miner

List of variants in gene COL1A1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.3424-43C>T rs41316717 0.01458
NM_000088.4(COL1A1):c.957+43G>A rs76055698 0.01261
NM_000088.4(COL1A1):c.1768-60C>T rs116464938 0.01136
NM_000088.4(COL1A1):c.3369+62C>T rs41316711 0.01056
NM_000088.4(COL1A1):c.1354-52G>C rs41317365 0.00912
NM_000088.4(COL1A1):c.334-26T>A rs41317347 0.00813
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_000088.4(COL1A1):c.1822-57G>A rs41316669 0.00778
NM_000088.4(COL1A1):c.544-24C>T rs113638816 0.00677
NM_000088.4(COL1A1):c.4006-110G>A rs113648997 0.00646
NM_000088.4(COL1A1):c.*1233G>A rs73987442 0.00516
NM_000088.4(COL1A1):c.471+44T>C rs189542584 0.00498
NM_000088.4(COL1A1):c.2452-23del rs146899953 0.00427
NM_000088.4(COL1A1):c.2127+60T>C rs112502723 0.00414
NM_000088.4(COL1A1):c.4005+44G>A rs145008436 0.00381
NM_000088.4(COL1A1):c.299-76T>A rs375696477 0.00360
NC_000017.11:g.50201979G>T rs530354504 0.00348
NM_000088.4(COL1A1):c.2668-47G>T rs41316689 0.00325
NM_000088.4(COL1A1):c.1767+177G>T rs187079088 0.00285
NM_000088.4(COL1A1):c.*1088G>A rs191326459 0.00264
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_000088.4(COL1A1):c.1668+16C>T rs41316659 0.00160
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 0.00127
NM_000088.4(COL1A1):c.2830-43C>T rs192268642 0.00107
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00085
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681 0.00069
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.3571C>G (p.Pro1191Ala) rs142570406 0.00059
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=) rs142312753 0.00054
NM_000088.4(COL1A1):c.3531+14C>T rs199766533 0.00053
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
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.2716G>A (p.Gly906Ser) rs145446512 0.00041
NM_000088.4(COL1A1):c.3369+28C>T rs2277634 0.00041
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074 0.00038
NM_000088.4(COL1A1):c.2668-12A>G rs200355573 0.00037
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.1876-10C>T rs370308401 0.00031
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.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681 0.00023
NM_000088.4(COL1A1):c.1638C>T (p.Ser546=) rs146450504 0.00022
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.2466A>G (p.Gln822=) rs551706871 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00019
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) rs151328660 0.00018
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.*4C>T rs770414874 0.00014
NM_000088.4(COL1A1):c.1347A>G (p.Gly449=) rs757237837 0.00014
NM_000088.4(COL1A1):c.3255C>T (p.Gly1085=) rs369670483 0.00014
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.2127+12G>A rs778814970 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000088.4(COL1A1):c.2973T>C (p.Ser991=) rs568904847 0.00012
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00011
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000088.4(COL1A1):c.1300-9C>T rs780311548 0.00010
NM_000088.4(COL1A1):c.2532C>T (p.Ala844=) rs374158703 0.00010
NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=) rs368746726 0.00010
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000088.4(COL1A1):c.471+14C>G rs774281966 0.00009
NM_000088.4(COL1A1):c.588+15C>T rs371817394 0.00009
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000088.4(COL1A1):c.1674C>T (p.Pro558=) rs578167693 0.00006
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) rs200620805 0.00006
NM_000088.4(COL1A1):c.3099+15C>A rs1189154641 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=) rs200145743 0.00006
NM_000088.4(COL1A1):c.4017C>T (p.Gly1339=) rs201256042 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_000088.4(COL1A1):c.1515+20G>A rs373728987 0.00004
NM_000088.4(COL1A1):c.1785T>A (p.Ala595=) rs780217716 0.00004
NM_000088.4(COL1A1):c.1930-5T>C rs762377921 0.00004
NM_000088.4(COL1A1):c.2355T>A (p.Gly785=) rs137937544 0.00004
NM_000088.4(COL1A1):c.299-9G>T rs373041336 0.00004
NM_000088.4(COL1A1):c.3846C>T (p.Cys1282=) rs772750234 0.00004
NM_000088.4(COL1A1):c.408A>G (p.Gly136=) rs533127847 0.00004
NM_000088.4(COL1A1):c.4362C>T (p.Phe1454=) rs758524007 0.00004
NM_000088.4(COL1A1):c.544-4A>G rs369898579 0.00004
NM_000088.4(COL1A1):c.1491C>T (p.Gly497=) rs773286290 0.00003
NM_000088.4(COL1A1):c.3045+3G>A rs41316695 0.00003
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=) rs374853330 0.00003
NM_000088.4(COL1A1):c.3532-13C>T rs369694934 0.00003
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=) rs753536372 0.00003
NM_000088.4(COL1A1):c.4182C>T (p.Asn1394=) rs755763693 0.00003
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.1515+6C>T rs369422507 0.00002
NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr) rs558173513 0.00002
NM_000088.4(COL1A1):c.323C>T (p.Thr108Ile) rs765837515 0.00002
NM_000088.4(COL1A1):c.336A>T (p.Gly112=) rs749946056 0.00002
NM_000088.4(COL1A1):c.3468C>T (p.Asn1156=) rs149980662 0.00002
NM_000088.4(COL1A1):c.3595A>G (p.Ser1199Gly) rs776355079 0.00002
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000088.4(COL1A1):c.3687C>T (p.Leu1229=) rs765353412 0.00002
NM_000088.4(COL1A1):c.-43C>T rs368832341 0.00001
NM_000088.4(COL1A1):c.133C>G (p.Leu45Val) rs546629502 0.00001
NM_000088.4(COL1A1):c.1822-10C>T rs767754125 0.00001
NM_000088.4(COL1A1):c.1929+17G>C rs1291997527 0.00001
NM_000088.4(COL1A1):c.1984-13C>A rs772638625 0.00001
NM_000088.4(COL1A1):c.2100C>T (p.Asn700=) rs201122145 0.00001
NM_000088.4(COL1A1):c.2181G>A (p.Gln727=) rs777571745 0.00001
NM_000088.4(COL1A1):c.2343+18C>T rs1050837911 0.00001
NM_000088.4(COL1A1):c.2829+20T>C rs372169804 0.00001
NM_000088.4(COL1A1):c.3013T>C (p.Leu1005=) rs772060459 0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000088.4(COL1A1):c.4176C>T (p.Gly1392=) rs745816283 0.00001
NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=) rs770326881 0.00001
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*1026del rs58879635
NM_000088.4(COL1A1):c.*1027G>T rs200882287
NM_000088.4(COL1A1):c.*1050del rs535610699
NM_000088.4(COL1A1):c.*142del rs572791972
NM_000088.4(COL1A1):c.*479C>T rs75168103
NM_000088.4(COL1A1):c.1002+8T>C rs1598297956
NM_000088.4(COL1A1):c.103+123_103+125del rs539689232
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1300-12dup rs776544779
NM_000088.4(COL1A1):c.1443C>G (p.Pro481=) rs770169695
NM_000088.4(COL1A1):c.1533T>G (p.Arg511=) rs899423835
NM_000088.4(COL1A1):c.165C>T (p.Pro55=) rs1057523677
NM_000088.4(COL1A1):c.1768-18A>C rs767179998
NM_000088.4(COL1A1):c.1815C>T (p.Gly605=) rs370384784
NM_000088.4(COL1A1):c.1822-32del rs757681237
NM_000088.4(COL1A1):c.1875+8T>A rs756572885
NM_000088.4(COL1A1):c.1876-6G>A rs763222869
NM_000088.4(COL1A1):c.1930-29_1930-18del rs1598293534
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000088.4(COL1A1):c.2235+11C>A rs572426023
NM_000088.4(COL1A1):c.2235+11C>G rs572426023
NM_000088.4(COL1A1):c.2344-7C>T rs1031284183
NM_000088.4(COL1A1):c.2397+13G>A rs200821764
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=) rs764910205
NM_000088.4(COL1A1):c.2560-18C>T rs2075559
NM_000088.4(COL1A1):c.2613+29C>T rs41316687
NM_000088.4(COL1A1):c.2668-7C>T rs1555572488
NM_000088.4(COL1A1):c.2830-11G>A rs1555572425
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.2937+9C>T rs1555572393
NM_000088.4(COL1A1):c.298+20CTGGGGC[3] rs150854949
NM_000088.4(COL1A1):c.3424-10C>T rs1555571948
NM_000088.4(COL1A1):c.3726C>A (p.Ile1242=) rs768572265
NM_000088.4(COL1A1):c.3732C>T (p.Asn1244=) rs994196345
NM_000088.4(COL1A1):c.3798C>T (p.His1266=) rs1567752621
NM_000088.4(COL1A1):c.3903C>T (p.Tyr1301=) rs1239012334
NM_000088.4(COL1A1):c.4005+4C>T rs528349466
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3]) rs769867566
NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=) rs112873723
NM_000088.4(COL1A1):c.459T>C (p.Pro153=) rs1555575026
NM_000088.4(COL1A1):c.516C>T (p.Thr172=) rs377195143

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