ClinVar Miner

List of variants in gene COL1A2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.70+719_70+720del rs201691876 0.01601
NM_000089.4(COL1A2):c.1719+284C>T rs150221927 0.01418
NM_000089.4(COL1A2):c.*205A>G rs6955879 0.01322
NM_000089.4(COL1A2):c.2080-123C>T rs41317720 0.01219
NM_000089.4(COL1A2):c.2025+264C>T rs116303816 0.01215
NM_000089.4(COL1A2):c.1764+85C>T rs41317156 0.01198
NM_000089.4(COL1A2):c.1558-72C>T rs77063844 0.01168
NM_000089.4(COL1A2):c.487-144A>G rs41316908 0.01100
NM_000089.4(COL1A2):c.279+149T>C rs141980217 0.01074
NM_000089.4(COL1A2):c.2565+225A>T rs75744241 0.01034
NM_000089.4(COL1A2):c.1765-148G>A rs41317168 0.01000
NM_000089.4(COL1A2):c.1350+43C>T rs77347506 0.00951
NM_000089.4(COL1A2):c.1198-22T>C rs41316935 0.00949
NM_000089.4(COL1A2):c.738+95del rs41316917 0.00945
NM_000089.3(COL1A2):c.-287C>T rs190926256 0.00907
NM_000089.4(COL1A2):c.595-224C>G rs182596261 0.00803
NM_000089.4(COL1A2):c.81+102C>T rs62464618 0.00764
NM_000089.4(COL1A2):c.133-27T>C rs141279380 0.00742
NM_000089.4(COL1A2):c.2565+164G>T rs115028384 0.00673
NM_000089.4(COL1A2):c.2080-61C>T rs75324239 0.00617
NM_000089.4(COL1A2):c.1404+188G>A rs111987633 0.00606
NM_000089.4(COL1A2):c.70+804T>C rs151000015 0.00557
NM_000089.4(COL1A2):c.1764+101T>C rs149354316 0.00550
NM_000089.4(COL1A2):c.1558-135C>T rs111331487 0.00540
NM_000089.4(COL1A2):c.70+674A>G rs140452715 0.00525
NM_000089.4(COL1A2):c.2080-192T>C rs113556716 0.00508
NM_000089.4(COL1A2):c.70+659G>T rs116065014 0.00462
NM_000089.4(COL1A2):c.71-198A>T rs148578259 0.00452
NM_000089.4(COL1A2):c.*283T>C rs114837909 0.00448
NM_000089.4(COL1A2):c.2080-196C>A rs77478691 0.00440
NM_000089.4(COL1A2):c.2026-131C>T rs113113796 0.00418
NM_000089.4(COL1A2):c.2349+284C>G rs148333642 0.00409
NM_000089.4(COL1A2):c.2404-318A>G rs149302348 0.00407
NM_000089.4(COL1A2):c.2349+40C>G rs112935840 0.00404
NM_000089.4(COL1A2):c.2079+22G>C rs111529169 0.00387
NM_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00382
NM_000089.4(COL1A2):c.2566-83A>G rs113921881 0.00380
NM_000089.4(COL1A2):c.2295+47C>T rs202165466 0.00377
NM_000089.4(COL1A2):c.3105+205A>C rs138030221 0.00371
NM_000089.4(COL1A2):c.1720-136T>C rs138758739 0.00370
NM_000089.4(COL1A2):c.82-186C>T rs113640098 0.00363
NM_000089.4(COL1A2):c.71-162G>A rs184324735 0.00341
NM_000089.4(COL1A2):c.71-332T>C rs113801999 0.00334
NM_000089.4(COL1A2):c.71-250T>C rs144840749 0.00328
NM_000089.4(COL1A2):c.1036-45C>T rs142252356 0.00316
NM_000089.4(COL1A2):c.132+196C>T rs115173517 0.00307
NM_000089.4(COL1A2):c.2997+108A>T rs190170993 0.00305
NM_000089.4(COL1A2):c.2404-236A>T rs144540759 0.00294
NM_000089.4(COL1A2):c.793-126C>T rs41316926 0.00235
NM_000089.4(COL1A2):c.96+10C>T rs185341110 0.00227
NM_000089.4(COL1A2):c.595-20C>T rs192022673 0.00226
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00172
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220 0.00167
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_000089.4(COL1A2):c.1765-109T>G rs189041834 0.00115
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00114
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000089.4(COL1A2):c.1971+18T>C rs41317174 0.00067
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=) rs1800253 0.00067
NM_000089.4(COL1A2):c.1405-16A>G rs73428205 0.00066
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840 0.00052
NM_000089.4(COL1A2):c.595-16A>G rs143041120 0.00051
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=) rs138357977 0.00039
NM_000089.4(COL1A2):c.138A>C (p.Pro46=) rs148639088 0.00029
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=) rs41317725 0.00028
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_000089.4(COL1A2):c.639+19A>T rs183516726 0.00024
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00023
NM_000089.4(COL1A2):c.981C>T (p.Arg327=) rs141762645 0.00021
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=) rs765470622 0.00019
NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr) rs375401215 0.00017
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00015
NM_000089.4(COL1A2):c.226-6C>A rs199616511 0.00014
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000089.4(COL1A2):c.1770A>G (p.Glu590=) rs138019868 0.00010
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=) rs148362963 0.00010
NM_000089.4(COL1A2):c.81+11del rs193922174 0.00010
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=) rs745413783 0.00009
NM_000089.4(COL1A2):c.739-4T>G rs373527410 0.00009
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.2133+12C>A rs554520173 0.00007
NM_000089.4(COL1A2):c.3186T>G (p.Ala1062=) rs930277720 0.00007
NM_000089.4(COL1A2):c.1036-9G>A rs202024467 0.00006
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=) rs200284501 0.00006
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=) rs747938841 0.00005
NM_000089.4(COL1A2):c.1566A>G (p.Pro522=) rs749869789 0.00005
NM_000089.4(COL1A2):c.2400C>T (p.Pro800=) rs139913150 0.00004
NM_000089.4(COL1A2):c.3114T>C (p.His1038=) rs974267627 0.00004
NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=) rs936707370 0.00004
NM_000089.4(COL1A2):c.3600C>T (p.Gly1200=) rs777362679 0.00004
NM_000089.4(COL1A2):c.48C>T (p.Thr16=) rs780687409 0.00004
NM_000089.4(COL1A2):c.783T>C (p.Pro261=) rs200436925 0.00004
NM_000089.4(COL1A2):c.1422C>T (p.Asp474=) rs766360064 0.00003
NM_000089.4(COL1A2):c.1503+11C>T rs538640615 0.00003
NM_000089.4(COL1A2):c.2187+18A>T rs757106839 0.00003
NM_000089.4(COL1A2):c.909C>T (p.Asn303=) rs985639597 0.00003
NM_000089.4(COL1A2):c.1359T>C (p.Pro453=) rs768981392 0.00002
NM_000089.4(COL1A2):c.2382G>A (p.Arg794=) rs754562962 0.00002
NM_000089.4(COL1A2):c.3108T>C (p.Gly1036=) rs768992682 0.00002
NM_000089.4(COL1A2):c.1113T>C (p.Pro371=) rs547506739 0.00001
NM_000089.4(COL1A2):c.1197+18C>A rs1200721271 0.00001
NM_000089.4(COL1A2):c.1198-16A>T rs984345878 0.00001
NM_000089.4(COL1A2):c.1405-3C>T rs1021622151 0.00001
NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr) rs568201784 0.00001
NM_000089.4(COL1A2):c.1563T>C (p.Ala521=) rs765688776 0.00001
NM_000089.4(COL1A2):c.1719+15T>C rs746176634 0.00001
NM_000089.4(COL1A2):c.1764+13T>G rs780458719 0.00001
NM_000089.4(COL1A2):c.1773C>T (p.Arg591=) rs774232044 0.00001
NM_000089.4(COL1A2):c.1971+17A>G rs1057524258 0.00001
NM_000089.4(COL1A2):c.2079+3A>G rs1226079110 0.00001
NM_000089.4(COL1A2):c.2080-4A>G rs747898313 0.00001
NM_000089.4(COL1A2):c.2753A>G (p.Asn918Ser) rs201052196 0.00001
NM_000089.4(COL1A2):c.2781+10A>G rs760431398 0.00001
NM_000089.4(COL1A2):c.2868C>T (p.Pro956=) rs141516754 0.00001
NM_000089.4(COL1A2):c.2944-4A>T rs143220941 0.00001
NM_000089.4(COL1A2):c.325-9T>C rs769542796 0.00001
NM_000089.4(COL1A2):c.3303A>G (p.Pro1101=) rs889862814 0.00001
NM_000089.4(COL1A2):c.3954+8A>G rs747626670 0.00001
NM_000089.4(COL1A2):c.3955-16T>G rs1268884051 0.00001
NM_000089.4(COL1A2):c.433-16A>G rs964597288 0.00001
NM_000089.4(COL1A2):c.541-18A>G rs1554395621 0.00001
NM_000089.4(COL1A2):c.720G>A (p.Val240=) rs1419697305 0.00001
NM_000089.4(COL1A2):c.793-20G>T rs770146997 0.00001
NM_000089.4(COL1A2):c.892-20T>G rs750377261 0.00001
NM_000089.4(COL1A2):c.892-5C>T rs778088746 0.00001
NM_000089.4(COL1A2):c.927G>A (p.Lys309=) rs746402161 0.00001
NM_000089.4(COL1A2):c.1764+86C>T rs41317159
NM_000089.4(COL1A2):c.1863+145G>C rs148666306
NM_000089.4(COL1A2):c.1971+334C>A rs116431201
NM_000089.4(COL1A2):c.2025+93_2025+94del rs148538556
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.226-12_226-11dup rs199593359
NM_000089.4(COL1A2):c.226-16T>C rs542458716
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr) rs150179964
NM_000089.4(COL1A2):c.3000C>T (p.Gly1000=) rs1554398439
NM_000089.4(COL1A2):c.3106-55del rs58882596
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.325-7C>A rs1057524020
NM_000089.4(COL1A2):c.3614G>T (p.Arg1205Leu) rs73428220
NM_000089.4(COL1A2):c.3783C>T (p.Ala1261=) rs201393190
NM_000089.4(COL1A2):c.666A>G (p.Arg222=) rs1057523615
NM_000089.4(COL1A2):c.96+240del rs138562211

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