ClinVar Miner

List of variants in gene COL1A2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 481
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1198-68T>A rs389328 0.89438
NM_000089.4(COL1A2):c.1720-316T>C rs42525 0.84516
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_000089.4(COL1A2):c.1197+61C>T rs42520 0.81248
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_000089.4(COL1A2):c.2673+245T>C rs441051 0.76787
NM_000089.4(COL1A2):c.3105+202G>T rs2621215 0.75852
NM_000089.4(COL1A2):c.3106-76C>G rs413826 0.57520
NM_000089.4(COL1A2):c.3105+164A>G rs400218 0.52614
NM_000089.4(COL1A2):c.3712-105T>C rs6465412 0.44245
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=) rs412777 0.35874
NM_000089.4(COL1A2):c.594+277C>T rs3763466 0.33016
NM_000089.4(COL1A2):c.1665+15A>G rs421587 0.28734
NM_000089.4(COL1A2):c.2025+301C>T rs2023729 0.28734
NM_000089.4(COL1A2):c.1764+221C>A rs2250365 0.28637
NM_000089.4(COL1A2):c.246T>C (p.Asp82=) rs1800222 0.25224
NM_000089.4(COL1A2):c.1035+54A>G rs2521206 0.24644
NM_000089.4(COL1A2):c.1036-144C>G rs2621208 0.24540
NM_000089.4(COL1A2):c.1558-188T>C rs3750109 0.23404
NM_000089.4(COL1A2):c.2565+65A>G rs42530 0.23350
NM_000089.4(COL1A2):c.2565+233G>A rs42531 0.23313
NM_000089.4(COL1A2):c.1972-134C>T rs42527 0.23190
NM_000089.4(COL1A2):c.*194C>T rs1060399 0.20320
NM_000089.4(COL1A2):c.3105+91T>C rs13240759 0.18554
NM_000089.4(COL1A2):c.3955-242G>A rs11764718 0.18008
NM_000089.4(COL1A2):c.487-137A>G rs810687 0.17865
NM_000089.4(COL1A2):c.280-196A>T rs405946 0.17853
NM_000089.4(COL1A2):c.280-68A>G rs406226 0.17807
NM_000089.4(COL1A2):c.2026-265G>A rs10487255 0.17113
NM_000089.4(COL1A2):c.1251+33G>A rs34026686 0.16783
NM_000089.4(COL1A2):c.2349+234T>G rs4266 0.16502
NM_000089.4(COL1A2):c.132+31G>A rs4729131 0.16349
NM_000089.4(COL1A2):c.1666-41G>A rs2301643 0.16053
NM_000089.3(COL1A2):c.-698C>A rs390201 0.15617
NM_000089.4(COL1A2):c.936+46G>A rs28754326 0.15342
NM_000089.4(COL1A2):c.2025+50del rs68023599 0.14708
NM_000089.4(COL1A2):c.3527-187A>C rs10046552 0.13941
NM_000089.4(COL1A2):c.486+125C>T rs28417792 0.12783
NM_000089.4(COL1A2):c.3712-302T>C rs59226272 0.12510
NM_000089.4(COL1A2):c.87T>C (p.Thr29=) rs1801182 0.12315
NM_000089.4(COL1A2):c.2565+173A>G rs62464629 0.10639
NM_000089.4(COL1A2):c.3106-221A>G rs7804898 0.10599
NM_000089.4(COL1A2):c.2674-235C>T rs41317734 0.10032
NM_000089.4(COL1A2):c.3105+43G>A rs62464631 0.09399
NM_000089.4(COL1A2):c.3955-323G>A rs12668754 0.09010
NM_000089.4(COL1A2):c.3955-215T>G rs435184 0.08841
NM_000089.4(COL1A2):c.738+98C>A rs2293740 0.08514
NM_000089.4(COL1A2):c.738+86T>A rs2293739 0.08513
NM_000089.4(COL1A2):c.2026-276T>G rs10234951 0.08464
NM_000089.4(COL1A2):c.541-129C>T rs17073 0.08355
NM_000089.4(COL1A2):c.1971+123C>A rs3736638 0.08261
NM_000089.4(COL1A2):c.2674-206C>T rs2072071 0.07530
NM_000089.4(COL1A2):c.2997+107T>A rs41317737 0.05457
NM_000089.4(COL1A2):c.2403+186T>C rs2472 0.04445
NM_000089.4(COL1A2):c.3106-175A>G rs73428218 0.04237
NM_000089.4(COL1A2):c.3712-13C>T rs74335369 0.03051
NM_000089.4(COL1A2):c.1878G>T (p.Val626=) rs1800238 0.02599
NM_000089.4(COL1A2):c.225+209C>T rs80212902 0.02461
NM_000089.4(COL1A2):c.82-163T>C rs79831951 0.02456
NM_000089.4(COL1A2):c.226-222A>G rs79939048 0.02455
NM_000089.4(COL1A2):c.1198-151T>C rs41316932 0.02453
NM_000089.4(COL1A2):c.82-12A>G rs143689469 0.01736
NM_000089.4(COL1A2):c.2026-318C>G rs79051306 0.01730
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.1558-72C>T rs77063844 0.01244
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.487-144A>G rs41316908 0.01100
NM_000089.4(COL1A2):c.279+149T>C rs141980217 0.01072
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 0.00843
NM_000089.4(COL1A2):c.133-27T>C rs141279380 0.00769
NM_000089.4(COL1A2):c.81+102C>T rs62464618 0.00764
NM_000089.4(COL1A2):c.2565+164G>T rs115028384 0.00717
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_000089.4(COL1A2):c.2080-61C>T rs75324239 0.00659
NM_000089.4(COL1A2):c.1404+188G>A rs111987633 0.00656
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000089.4(COL1A2):c.1558-135C>T rs111331487 0.00562
NM_000089.4(COL1A2):c.70+674A>G rs140452715 0.00557
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.2080-192T>C rs113556716 0.00508
NM_000089.4(COL1A2):c.70+659G>T rs116065014 0.00496
NM_000089.4(COL1A2):c.2080-196C>A rs77478691 0.00471
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.2079+22G>C rs111529169 0.00419
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.2295+47C>T rs202165466 0.00408
NM_000089.4(COL1A2):c.2404-318A>G rs149302348 0.00407
NM_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00405
NM_000089.4(COL1A2):c.1720-136T>C rs138758739 0.00404
NM_000089.4(COL1A2):c.2349+40C>G rs112935840 0.00404
NM_000089.4(COL1A2):c.2566-83A>G rs113921881 0.00404
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_000089.4(COL1A2):c.3105+205A>C rs138030221 0.00371
NM_000089.4(COL1A2):c.82-186C>T rs113640098 0.00363
NM_000089.4(COL1A2):c.71-332T>C rs113801999 0.00361
NM_000089.4(COL1A2):c.71-250T>C rs144840749 0.00358
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_000089.4(COL1A2):c.71-162G>A rs184324735 0.00341
NM_000089.4(COL1A2):c.975A>T (p.Gly325=) rs148063325 0.00340
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000089.4(COL1A2):c.1036-45C>T rs142252356 0.00338
NM_000089.4(COL1A2):c.132+196C>T rs115173517 0.00328
NM_000089.4(COL1A2):c.2404-236A>T rs144540759 0.00313
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_000089.4(COL1A2):c.2997+108A>T rs190170993 0.00305
NM_000089.4(COL1A2):c.793-126C>T rs41316926 0.00249
NM_000089.4(COL1A2):c.595-20C>T rs192022673 0.00242
NM_000089.4(COL1A2):c.96+10C>T rs185341110 0.00242
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220 0.00167
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
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.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.1765-109T>G rs189041834 0.00115
NM_000089.4(COL1A2):c.582T>G (p.Ala194=) rs144540908 0.00113
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000089.4(COL1A2):c.1971+18T>C rs41317174 0.00072
NM_000089.4(COL1A2):c.1405-16A>G rs73428205 0.00071
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=) rs1800253 0.00067
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.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840 0.00054
NM_000089.4(COL1A2):c.595-16A>G rs143041120 0.00051
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=) rs138357977 0.00040
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
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 0.00024
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
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.1583A>G (p.Asn528Ser) rs41317144 0.00017
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000089.4(COL1A2):c.226-6C>A rs199616511 0.00014
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp) rs148802548 0.00013
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.2687C>T (p.Pro896Leu) rs202068380 0.00011
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp) rs1014550811 0.00011
NM_000089.4(COL1A2):c.148C>T (p.Pro50Ser) rs879344129 0.00010
NM_000089.4(COL1A2):c.1770A>G (p.Glu590=) rs138019868 0.00010
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His) rs147063981 0.00010
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=) rs148362963 0.00010
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=) rs745413783 0.00010
NM_000089.4(COL1A2):c.2275G>A (p.Val759Ile) rs200501072 0.00009
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His) rs140368271 0.00009
NM_000089.4(COL1A2):c.3186T>G (p.Ala1062=) rs930277720 0.00009
NM_000089.4(COL1A2):c.395G>A (p.Arg132His) rs372678526 0.00009
NM_000089.4(COL1A2):c.739-4T>G rs373527410 0.00009
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His) rs773985005 0.00008
NM_000089.4(COL1A2):c.2968G>T (p.Ala990Ser) rs367848162 0.00008
NM_000089.4(COL1A2):c.3676G>A (p.Val1226Ile) rs777501717 0.00008
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595 0.00007
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu) rs149858889 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.1566A>G (p.Pro522=) rs749869789 0.00006
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met) rs374878685 0.00006
NM_000089.4(COL1A2):c.2465G>A (p.Arg822His) rs1800240 0.00006
NM_000089.4(COL1A2):c.2527G>A (p.Ala843Thr) rs112697991 0.00006
NM_000089.4(COL1A2):c.2642A>C (p.Glu881Ala) rs751201659 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630 0.00006
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779 0.00006
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg) rs200278401 0.00006
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile) rs142803502 0.00006
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His) rs764780528 0.00005
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=) rs747938841 0.00005
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala) rs760732696 0.00005
NM_000089.4(COL1A2):c.3691A>G (p.Thr1231Ala) rs201560619 0.00005
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887 0.00005
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) rs193922159 0.00004
NM_000089.4(COL1A2):c.220G>A (p.Gly74Ser) rs776365460 0.00004
NM_000089.4(COL1A2):c.2400C>T (p.Pro800=) rs139913150 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000089.4(COL1A2):c.3100A>G (p.Ile1034Val) rs746794922 0.00004
NM_000089.4(COL1A2):c.3114T>C (p.His1038=) rs974267627 0.00004
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro) rs767399660 0.00004
NM_000089.4(COL1A2):c.3473A>C (p.Asn1158Thr) rs1034555044 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.3647G>T (p.Trp1216Leu) rs1023594853 0.00004
NM_000089.4(COL1A2):c.378+6T>C rs752336890 0.00004
NM_000089.4(COL1A2):c.3835A>G (p.Met1279Val) rs775850964 0.00004
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser) rs193922170 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.909C>T (p.Asn303=) rs985639597 0.00004
NM_000089.4(COL1A2):c.980G>A (p.Arg327His) rs764174111 0.00004
NM_000089.4(COL1A2):c.1219C>A (p.Leu407Ile) rs1475280953 0.00003
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile) rs550867796 0.00003
NM_000089.4(COL1A2):c.1422C>T (p.Asp474=) rs766360064 0.00003
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln) rs200231086 0.00003
NM_000089.4(COL1A2):c.1690G>A (p.Ala564Thr) rs41317153 0.00003
NM_000089.4(COL1A2):c.2187+18A>T rs757106839 0.00003
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp) rs759251034 0.00003
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser) rs779303344 0.00003
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His) rs200357942 0.00003
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln) rs751898427 0.00003
NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala) rs752431578 0.00003
NM_000089.4(COL1A2):c.1048C>T (p.Pro350Ser) rs201463779 0.00002
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu) rs772238510 0.00002
NM_000089.4(COL1A2):c.1359T>C (p.Pro453=) rs768981392 0.00002
NM_000089.4(COL1A2):c.1404+4A>C rs369907691 0.00002
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His) rs754443174 0.00002
NM_000089.4(COL1A2):c.2382G>A (p.Arg794=) rs754562962 0.00002
NM_000089.4(COL1A2):c.2753A>G (p.Asn918Ser) rs201052196 0.00002
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His) rs559605075 0.00002
NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn) rs779934676 0.00002
NM_000089.4(COL1A2):c.3108T>C (p.Gly1036=) rs768992682 0.00002
NM_000089.4(COL1A2):c.3491G>A (p.Arg1164His) rs764327381 0.00002
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn) rs754149044 0.00002
NM_000089.4(COL1A2):c.4013G>A (p.Arg1338His) rs748714040 0.00002
NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr) rs375401215 0.00002
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr) rs141075408 0.00002
NM_000089.4(COL1A2):c.1113T>C (p.Pro371=) rs547506739 0.00001
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro) rs972825197 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.1214G>A (p.Arg405His) rs368702549 0.00001
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys) rs754825427 0.00001
NM_000089.4(COL1A2):c.1319G>A (p.Arg440His) rs141677005 0.00001
NM_000089.4(COL1A2):c.1354C>T (p.Leu452Phe) rs780096548 0.00001
NM_000089.4(COL1A2):c.1502C>G (p.Thr501Ser) rs1466730398 0.00001
NM_000089.4(COL1A2):c.1503+11C>T rs538640615 0.00001
NM_000089.4(COL1A2):c.1563T>C (p.Ala521=) rs765688776 0.00001
NM_000089.4(COL1A2):c.1654C>T (p.Pro552Ser) rs763695362 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.1930G>A (p.Glu644Lys) rs143178652 0.00001
NM_000089.4(COL1A2):c.1971+17A>G rs1057524258 0.00001
NM_000089.4(COL1A2):c.1971+5G>A rs375027186 0.00001
NM_000089.4(COL1A2):c.1985T>C (p.Leu662Pro) rs1490580465 0.00001
NM_000089.4(COL1A2):c.2079+3A>G rs1226079110 0.00001
NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys) rs72658160 0.00001
NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys) rs770271259 0.00001
NM_000089.4(COL1A2):c.2356A>C (p.Thr786Pro) rs774233882 0.00001
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala) rs928361235 0.00001
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr) rs1245765830 0.00001
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser) rs72659306 0.00001
NM_000089.4(COL1A2):c.2781+10A>G rs760431398 0.00001
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn) rs776169837 0.00001
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 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.2957C>T (p.Pro986Leu) rs768171831 0.00001
NM_000089.4(COL1A2):c.2958del (p.Val987fs) rs1064793527 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.2993C>T (p.Pro998Leu) rs1204582322 0.00001
NM_000089.4(COL1A2):c.310G>A (p.Ala104Thr) rs368044698 0.00001
NM_000089.4(COL1A2):c.3140T>G (p.Val1047Gly) rs1033662953 0.00001
NM_000089.4(COL1A2):c.324+15C>T rs371250316 0.00001
NM_000089.4(COL1A2):c.329C>T (p.Pro110Leu) rs770180852 0.00001
NM_000089.4(COL1A2):c.3303A>G (p.Pro1101=) rs889862814 0.00001
NM_000089.4(COL1A2):c.3470A>G (p.Lys1157Arg) rs1469193234 0.00001
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu) rs766941490 0.00001
NM_000089.4(COL1A2):c.3605C>A (p.Thr1202Asn) rs770720103 0.00001
NM_000089.4(COL1A2):c.3773G>A (p.Arg1258His) rs200663095 0.00001
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp) rs72656360 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.3995A>T (p.Lys1332Ile) rs1484368913 0.00001
NM_000089.4(COL1A2):c.4036C>T (p.Pro1346Ser) rs369008932 0.00001
NM_000089.4(COL1A2):c.4052G>A (p.Gly1351Asp) rs372535479 0.00001
NM_000089.4(COL1A2):c.4078A>G (p.Ile1360Val) rs1281006993 0.00001
NM_000089.4(COL1A2):c.607G>C (p.Ala203Pro) rs1198800868 0.00001
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala) rs1210318478 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.838G>A (p.Gly280Ser) rs72656387 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
NC_000007.14:g.94394428del rs71120389
NM_000089.4(COL1A2):c.*654_*655insGTTGTCC rs3917
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser) rs1064796419
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp) rs1057518430
NM_000089.4(COL1A2):c.1069_1070del (p.Ser357fs) rs1131691888
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1108G>T (p.Gly370Cys) rs72658103
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val) rs72658104
NM_000089.4(COL1A2):c.1136G>A (p.Gly379Glu) rs121912912
NM_000089.4(COL1A2):c.114A>C (p.Arg38Ser) rs1462108134
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser) rs67707918
NM_000089.4(COL1A2):c.1197+5G>A rs68132885
NM_000089.4(COL1A2):c.1199G>A (p.Gly400Asp)
NM_000089.4(COL1A2):c.1252-7del rs35587403
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)
NM_000089.4(COL1A2):c.1316G>A (p.Gly439Asp) rs1554396355
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.4(COL1A2):c.1360G>T (p.Gly454Cys) rs72658117
NM_000089.4(COL1A2):c.1366C>A (p.Pro456Thr)
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr) rs2115902728
NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser) rs72658118
NM_000089.4(COL1A2):c.1405-3C>T rs1021622151
NM_000089.4(COL1A2):c.1408C>T (p.Leu470Phe)
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser) rs755058199
NM_000089.4(COL1A2):c.1430C>T (p.Pro477Leu)
NM_000089.4(COL1A2):c.1453G>A (p.Ala485Thr)
NM_000089.4(COL1A2):c.145C>A (p.Pro49Thr)
NM_000089.4(COL1A2):c.1498C>G (p.Pro500Ala) rs2115904764
NM_000089.4(COL1A2):c.1503+1G>C rs1554396615
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala) rs1791962073
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser) rs42524
NM_000089.4(COL1A2):c.1658G>A (p.Gly553Asp) rs72658137
NM_000089.4(COL1A2):c.1690G>C (p.Ala564Pro) rs41317153
NM_000089.4(COL1A2):c.1702G>A (p.Gly568Ser) rs1064796593
NM_000089.4(COL1A2):c.1727A>T (p.His576Leu)
NM_000089.4(COL1A2):c.1764+86C>T rs41317159
NM_000089.4(COL1A2):c.1765-141G>A rs42526
NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser) rs72658141
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala) rs72658142
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.4(COL1A2):c.1847G>T (p.Gly616Val) rs1554397133
NM_000089.4(COL1A2):c.1863+145G>C rs148666306
NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp) rs1584324507
NM_000089.4(COL1A2):c.1971+1G>A rs72658151
NM_000089.4(COL1A2):c.1971+334C>A rs116431201
NM_000089.4(COL1A2):c.1972G>T (p.Gly658Cys) rs2115924247
NM_000089.4(COL1A2):c.1990G>C (p.Gly664Arg)
NM_000089.4(COL1A2):c.2009del (p.Gly670fs) rs886041426
NM_000089.4(COL1A2):c.2025+49del rs3216182
NM_000089.4(COL1A2):c.2025+93_2025+94del rs148538556
NM_000089.4(COL1A2):c.2026-179_2026-178del rs72055658
NM_000089.4(COL1A2):c.2026-32_2026-31del rs41317717
NM_000089.4(COL1A2):c.2054G>A (p.Gly685Asp) rs886041749
NM_000089.4(COL1A2):c.2080-189T>C rs42528
NM_000089.4(COL1A2):c.2080-4A>G rs747898313
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2095GCTGGTCCT[2] (p.699AGP[2]) rs72658162
NM_000089.4(COL1A2):c.2133+12C>A rs554520173
NM_000089.4(COL1A2):c.2133+4A>C
NM_000089.4(COL1A2):c.2133+6_2133+8delinsAAC rs2115930608
NM_000089.4(COL1A2):c.2144G>A (p.Gly715Asp) rs72658167
NM_000089.4(COL1A2):c.2152G>A (p.Gly718Ser) rs72658168
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile) rs189374343
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys) rs72658173
NM_000089.4(COL1A2):c.2225G>A (p.Gly742Glu) rs2115931969
NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)
NM_000089.4(COL1A2):c.225G>A (p.Gly75=) rs1791665796
NM_000089.4(COL1A2):c.226-11del rs199593359
NM_000089.4(COL1A2):c.226-11dup rs199593359
NM_000089.4(COL1A2):c.226-12_226-11dup rs199593359
NM_000089.4(COL1A2):c.226-16T>C rs542458716
NM_000089.4(COL1A2):c.226-1G>T rs66820119
NM_000089.4(COL1A2):c.226-2A>G rs72656355
NM_000089.4(COL1A2):c.2295+3A>C rs757560633
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.4(COL1A2):c.2342G>A (p.Gly781Asp) rs1057524873
NM_000089.4(COL1A2):c.2342G>T (p.Gly781Val) rs1057524873
NM_000089.4(COL1A2):c.2350-124_2350-87del rs3216902
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala) rs72658189
NM_000089.4(COL1A2):c.2400_2402del (p.Ser801del) rs2115937134
NM_000089.4(COL1A2):c.2403+254_2403+255del rs11312537
NM_000089.4(COL1A2):c.2403+255del rs11312537
NM_000089.4(COL1A2):c.2486G>A (p.Gly829Asp)
NM_000089.4(COL1A2):c.2533dup (p.Glu845fs) rs1584328014
NM_000089.4(COL1A2):c.2567G>A (p.Gly856Glu) rs886039689
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr) rs150179964
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.4(COL1A2):c.2584G>A (p.Gly862Ser) rs1554398126
NM_000089.4(COL1A2):c.2673+1G>A rs1085307477
NM_000089.4(COL1A2):c.2720G>A (p.Gly907Asp) rs121912900
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
NM_000089.4(COL1A2):c.2809G>T (p.Gly937Cys) rs72659309
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr) rs1476399806
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser) rs72659312
NM_000089.4(COL1A2):c.2864G>A (p.Gly955Asp) rs2115952213
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val) rs1482901474
NM_000089.4(COL1A2):c.2891G>A (p.Gly964Asp) rs1085307707
NM_000089.4(COL1A2):c.2923C>T (p.His975Tyr)
NM_000089.4(COL1A2):c.292C>A (p.Pro98Thr) rs765868569
NM_000089.4(COL1A2):c.2943+1_2943+2del rs1554398361
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000089.4(COL1A2):c.2997+3A>G
NM_000089.4(COL1A2):c.3000C>T (p.Gly1000=) rs1554398439
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3034G>C (p.Gly1012Arg) rs72659319
NM_000089.4(COL1A2):c.3079G>A (p.Gly1027Arg) rs72659322
NM_000089.4(COL1A2):c.3106-104G>A rs7805430
NM_000089.4(COL1A2):c.3106-55del rs58882596
NM_000089.4(COL1A2):c.3106-56_3106-55del rs58882596
NM_000089.4(COL1A2):c.3113A>G (p.His1038Arg) rs2115957051
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr) rs1554398544
NM_000089.4(COL1A2):c.3197G>T (p.Gly1066Val)
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser) rs763974489
NM_000089.4(COL1A2):c.325-7C>A rs1057524020
NM_000089.4(COL1A2):c.3260G>A (p.Gly1087Asp) rs72659335
NM_000089.4(COL1A2):c.3267+94G>T rs75610664
NM_000089.4(COL1A2):c.335G>T (p.Gly112Val)
NM_000089.4(COL1A2):c.3367C>T (p.Arg1123Cys) rs765271962
NM_000089.4(COL1A2):c.3368G>A (p.Arg1123His) rs145541630
NM_000089.4(COL1A2):c.3388_3389delinsAT (p.Pro1130Ile) rs1554398622
NM_000089.4(COL1A2):c.3407A>G (p.Asp1136Gly) rs745366015
NM_000089.4(COL1A2):c.3482G>T (p.Arg1161Leu) rs542912072
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val) rs72656358
NM_000089.4(COL1A2):c.3614G>T (p.Arg1205Leu) rs73428220
NM_000089.4(COL1A2):c.3667A>G (p.Lys1223Glu) rs1300326463
NM_000089.4(COL1A2):c.3711+5G>A
NM_000089.4(COL1A2):c.3712-102T>C rs112581813
NM_000089.4(COL1A2):c.3712-297del rs140210036
NM_000089.4(COL1A2):c.3712-66dup rs11380334
NM_000089.4(COL1A2):c.3712-67_3712-66dup rs11380334
NM_000089.4(COL1A2):c.3712-81dup rs11374490
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr) rs763721360
NM_000089.4(COL1A2):c.3747A>C (p.Glu1249Asp) rs1792349462
NM_000089.4(COL1A2):c.3765del (p.Phe1256fs) rs1584332692
NM_000089.4(COL1A2):c.3772C>A (p.Arg1258Ser) rs766273613
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys) rs766273613
NM_000089.4(COL1A2):c.3783C>T (p.Ala1261=) rs201393190
NM_000089.4(COL1A2):c.3946G>A (p.Gly1316Ser) rs2115967160
NM_000089.4(COL1A2):c.3954+120_3954+123del rs149067653
NM_000089.4(COL1A2):c.401del (p.Pro134fs) rs1057518136
NM_000089.4(COL1A2):c.4046T>C (p.Ile1349Thr)
NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp) rs1057524847
NM_000089.4(COL1A2):c.431A>C (p.Asp144Ala)
NM_000089.4(COL1A2):c.432+1G>A rs1554395431
NM_000089.4(COL1A2):c.432+3A>C
NM_000089.4(COL1A2):c.432+4_432+7del rs72656363
NM_000089.4(COL1A2):c.432+6T>C
NM_000089.4(COL1A2):c.433-16A>G rs964597288
NM_000089.4(COL1A2):c.487-4_501del rs74315146
NM_000089.4(COL1A2):c.502C>T (p.Pro168Ser)
NM_000089.4(COL1A2):c.541-18A>G rs1554395621
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys) rs1057517953
NM_000089.4(COL1A2):c.594+118del rs193922172
NM_000089.4(COL1A2):c.595-125A>G rs42517
NM_000089.4(COL1A2):c.595-2A>G rs72656375
NM_000089.4(COL1A2):c.666A>G (p.Arg222=) rs1057523615
NM_000089.4(COL1A2):c.693+3A>T
NM_000089.4(COL1A2):c.693+5G>A
NM_000089.4(COL1A2):c.694-2A>C rs1554395903
NM_000089.4(COL1A2):c.70+518A>G rs114845681
NM_000089.4(COL1A2):c.71-7dup rs144776919
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)
NM_000089.4(COL1A2):c.718G>T (p.Val240Leu) rs775599249
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys) rs1064794058
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000089.4(COL1A2):c.792G>A (p.Lys264=) rs2115890442
NM_000089.4(COL1A2):c.81+11del rs193922174
NM_000089.4(COL1A2):c.812G>A (p.Gly271Asp)
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser) rs906553840
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg) rs906553840
NM_000089.4(COL1A2):c.880G>A (p.Val294Ile) rs145693444
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe) rs145693444
NM_000089.4(COL1A2):c.898C>G (p.Pro300Ala)
NM_000089.4(COL1A2):c.96+240del rs138562211
NM_000089.4(COL1A2):c.96+249del rs550829017
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000089.4(COL1A2):c.983G>A (p.Gly328Asp) rs72656396

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.