ClinVar Miner

List of variants in gene COL1A2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
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.1008C>T (p.Ala336=) rs138357977 0.00040
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) rs370608825 0.00024
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
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.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.2905G>A (p.Val969Met) rs765448220 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.2717G>A (p.Arg906His) rs147063981 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.395G>A (p.Arg132His) rs372678526 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.1564C>T (p.Pro522Ser) rs199732595 0.00007
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu) rs149858889 0.00007
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.2843G>A (p.Arg948His) rs201168934 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.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.106G>A (p.Gly36Arg) rs368447157 0.00004
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.286A>G (p.Met96Val) rs763509640 0.00004
NM_000089.4(COL1A2):c.3100A>G (p.Ile1034Val) rs746794922 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.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.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.1402G>A (p.Val468Ile) rs770497661 0.00003
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln) rs200231086 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.1048C>T (p.Pro350Ser) rs201463779 0.00002
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu) rs772238510 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.2330G>A (p.Arg777His) rs746187799 0.00002
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His) rs559605075 0.00002
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile) rs752207083 0.00002
NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn) rs779934676 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.4012C>T (p.Arg1338Cys) rs781721538 0.00002
NM_000089.4(COL1A2):c.4013G>A (p.Arg1338His) rs748714040 0.00002
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr) rs141075408 0.00002
NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser) rs755584404 0.00001
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro) rs972825197 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.1522G>A (p.Gly508Ser) rs769600024 0.00001
NM_000089.4(COL1A2):c.1611+9T>A rs200333208 0.00001
NM_000089.4(COL1A2):c.1654C>T (p.Pro552Ser) rs763695362 0.00001
NM_000089.4(COL1A2):c.1930G>A (p.Glu644Lys) rs143178652 0.00001
NM_000089.4(COL1A2):c.1985T>C (p.Leu662Pro) rs1490580465 0.00001
NM_000089.4(COL1A2):c.2041G>A (p.Val681Ile) rs781026808 0.00001
NM_000089.4(COL1A2):c.2079+8T>C rs745913455 0.00001
NM_000089.4(COL1A2):c.2136T>C (p.Gly712=) rs1228519738 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.256G>C (p.Val86Leu) rs777971816 0.00001
NM_000089.4(COL1A2):c.2633C>T (p.Ser878Leu) rs773819922 0.00001
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr) rs1245765830 0.00001
NM_000089.4(COL1A2):c.2797G>A (p.Asp933Asn) rs779358259 0.00001
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn) rs776169837 0.00001
NM_000089.4(COL1A2):c.287T>A (p.Met96Lys) rs1026230498 0.00001
NM_000089.4(COL1A2):c.2932C>T (p.Arg978Cys) rs145633247 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.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.3470A>G (p.Lys1157Arg) rs1469193234 0.00001
NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His) rs750815565 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.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.4084C>T (p.Pro1362Ser) rs755358364 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.845G>A (p.Arg282His) rs542393716 0.00001
NM_000089.4(COL1A2):c.891+7A>T rs1017077909 0.00001
NM_000089.4(COL1A2):c.114A>C (p.Arg38Ser) rs1462108134
NM_000089.4(COL1A2):c.125G>A (p.Gly42Glu)
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)
NM_000089.4(COL1A2):c.1265G>T (p.Ser422Ile) rs1554396329
NM_000089.4(COL1A2):c.1366C>A (p.Pro456Thr)
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr) rs2115902728
NM_000089.4(COL1A2):c.1408C>T (p.Leu470Phe)
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)
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.1470C>A (p.Gly490=) rs768334731
NM_000089.4(COL1A2):c.1475T>C (p.Ile492Thr) rs761529493
NM_000089.4(COL1A2):c.1498C>G (p.Pro500Ala) rs2115904764
NM_000089.4(COL1A2):c.149C>A (p.Pro50Gln)
NM_000089.4(COL1A2):c.1501_1503del (p.Thr501del) rs1554396613
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser) rs42524
NM_000089.4(COL1A2):c.1690G>C (p.Ala564Pro) rs41317153
NM_000089.4(COL1A2):c.1727A>T (p.His576Leu)
NM_000089.4(COL1A2):c.1925C>T (p.Pro642Leu) rs1064797338
NM_000089.4(COL1A2):c.1966G>A (p.Glu656Lys) rs794727557
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)
NM_000089.4(COL1A2):c.211C>T (p.Pro71Ser)
NM_000089.4(COL1A2):c.2133+4A>C
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile) rs189374343
NM_000089.4(COL1A2):c.2187+5G>A
NM_000089.4(COL1A2):c.2187+6T>A rs794727585
NM_000089.4(COL1A2):c.225G>A (p.Gly75=) rs1791665796
NM_000089.4(COL1A2):c.226-11T>A rs2115865122
NM_000089.4(COL1A2):c.2295+3A>C rs757560633
NM_000089.4(COL1A2):c.2320G>T (p.Ala774Ser) rs1584326654
NM_000089.4(COL1A2):c.2321C>T (p.Ala774Val) rs1584326663
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
NM_000089.4(COL1A2):c.2400_2402del (p.Ser801del) rs2115937134
NM_000089.4(COL1A2):c.2426C>A (p.Pro809His)
NM_000089.4(COL1A2):c.2428C>T (p.Pro810Ser) rs779393490
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
NM_000089.4(COL1A2):c.266G>A (p.Gly89Asp)
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr) rs1476399806
NM_000089.4(COL1A2):c.2841G>T (p.Glu947Asp)
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val) rs1482901474
NM_000089.4(COL1A2):c.2904C>G (p.Pro968=) rs142352627
NM_000089.4(COL1A2):c.290G>A (p.Gly97Glu) rs1584315929
NM_000089.4(COL1A2):c.2923C>T (p.His975Tyr)
NM_000089.4(COL1A2):c.292C>A (p.Pro98Thr) rs765868569
NM_000089.4(COL1A2):c.2997+3A>G
NM_000089.4(COL1A2):c.3113A>G (p.His1038Arg) rs2115957051
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr) rs1554398544
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser) rs763974489
NM_000089.4(COL1A2):c.3267+4A>G rs2115958188
NM_000089.4(COL1A2):c.3273C>T (p.Pro1091=) rs563540756
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.3430A>C (p.Asn1144His) rs374282276
NM_000089.4(COL1A2):c.3481C>T (p.Arg1161Cys)
NM_000089.4(COL1A2):c.3482G>T (p.Arg1161Leu) rs542912072
NM_000089.4(COL1A2):c.3527-4A>T rs888826541
NM_000089.4(COL1A2):c.3638C>A (p.Ala1213Asp)
NM_000089.4(COL1A2):c.3667A>G (p.Lys1223Glu) rs1300326463
NM_000089.4(COL1A2):c.3704G>A (p.Gly1235Asp) rs1792333626
NM_000089.4(COL1A2):c.3711+5G>A
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.3772C>A (p.Arg1258Ser) rs766273613
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys) rs766273613
NM_000089.4(COL1A2):c.3785A>G (p.Asn1262Ser) rs1562908780
NM_000089.4(COL1A2):c.3946G>A (p.Gly1316Ser) rs2115967160
NM_000089.4(COL1A2):c.4046T>C (p.Ile1349Thr)
NM_000089.4(COL1A2):c.431A>C (p.Asp144Ala)
NM_000089.4(COL1A2):c.432+3A>C
NM_000089.4(COL1A2):c.432+6T>C
NM_000089.4(COL1A2):c.449C>T (p.Pro150Leu)
NM_000089.4(COL1A2):c.452G>C (p.Gly151Ala)
NM_000089.4(COL1A2):c.502C>T (p.Pro168Ser)
NM_000089.4(COL1A2):c.539G>A (p.Arg180Lys)
NM_000089.4(COL1A2):c.540+8C>T rs1064797337
NM_000089.4(COL1A2):c.594G>A (p.Lys198=) rs548276247
NM_000089.4(COL1A2):c.602C>T (p.Pro201Leu)
NM_000089.4(COL1A2):c.679G>T (p.Ala227Ser) rs375401215
NM_000089.4(COL1A2):c.682C>T (p.Pro228Ser) rs1791843469
NM_000089.4(COL1A2):c.693+3A>T
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)
NM_000089.4(COL1A2):c.718G>T (p.Val240Leu) rs775599249
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.896A>C (p.Asn299Thr) rs2115893108
NM_000089.4(COL1A2):c.898C>G (p.Pro300Ala)
NM_000089.4(COL1A2):c.917C>T (p.Thr306Ile) rs1562900943
NM_000089.4(COL1A2):c.975A>C (p.Gly325=) rs148063325

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