ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) rs193922150 0.00011
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn) rs72656351 0.00003
NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser) rs1278821174 0.00001
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu) rs780472683 0.00001
NC_000017.10:g.(?_48262863)_(48277328_?)dup
NC_000017.10:g.(?_48271690)_(48277328_?)dup
NC_000017.11:g.(?_50198141)_(50198524_?)del
NM_000088.3(COL1A1):c.[1601T>A];[1608_1614+25del]
NM_000088.4(COL1A1):c.1002+5G>T rs1907566530
NM_000088.4(COL1A1):c.1004G>A (p.Gly335Asp) rs1907549643
NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)
NM_000088.4(COL1A1):c.1011_1019del (p.Ala340_Pro342del)
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val) rs1555574249
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys) rs193922137
NM_000088.4(COL1A1):c.103+5G>A rs1555575835
NM_000088.4(COL1A1):c.103+5G>C rs1555575835
NM_000088.4(COL1A1):c.104-2A>G rs2144594870
NM_000088.4(COL1A1):c.1057-2A>T rs66511271
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser) rs1907516553
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val) rs66494876
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala) rs1907512918
NM_000088.4(COL1A1):c.1155+1G>C rs72648315
NM_000088.4(COL1A1):c.1156G>A (p.Gly386Arg)
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.1200+1del rs2144576696
NM_000088.4(COL1A1):c.1200+2dup rs1555574113
NM_000088.4(COL1A1):c.1229G>C (p.Gly410Ala)
NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg) rs193922138
NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg) rs1567760604
NM_000088.4(COL1A1):c.1292G>T (p.Gly431Val) rs72648332
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala) rs72648333
NM_000088.4(COL1A1):c.1354-1G>C
NM_000088.4(COL1A1):c.1354-6_1359del
NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg) rs2144573313
NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu) rs267604943
NM_000088.4(COL1A1):c.141C>G (p.Tyr47Ter)
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val)
NM_000088.4(COL1A1):c.1453G>A (p.Gly485Ser)
NM_000088.4(COL1A1):c.1461+2T>G rs1907417140
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.4(COL1A1):c.1517G>A (p.Gly506Asp)
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala) rs193922140
NM_000088.4(COL1A1):c.1561G>T (p.Gly521Ter) rs2144571189
NM_000088.4(COL1A1):c.1608_1609del (p.Ala537fs) rs2144570980
NM_000088.4(COL1A1):c.1614+1G>T rs72648357
NM_000088.4(COL1A1):c.1657del (p.Thr553fs) rs193922141
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) rs72648359
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser) rs1907330109
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp) rs2144569208
NM_000088.4(COL1A1):c.1745del (p.Phe582fs) rs2144569160
NM_000088.4(COL1A1):c.1787G>C (p.Gly596Ala)
NM_000088.4(COL1A1):c.1811del (p.Pro604fs)
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.1821+1del
NM_000088.4(COL1A1):c.1832G>A (p.Gly611Asp)
NM_000088.4(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000088.4(COL1A1):c.1867G>A (p.Gly623Ser) rs2144564489
NM_000088.4(COL1A1):c.1891_1895del (p.Glu630_Arg631insTer) rs2144563843
NM_000088.4(COL1A1):c.1929+1_1929+6del
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg) rs72651626
NM_000088.4(COL1A1):c.2045del (p.Pro682fs) rs2144560659
NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala) rs1598292524
NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser) rs1404470949
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter) rs193922144
NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser) rs1907108266
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys) rs1907108266
NM_000088.4(COL1A1):c.2097del (p.Asn700fs) rs72651643
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser) rs68114505
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.4(COL1A1):c.2192G>A (p.Gly731Asp)
NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys) rs1567757112
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala) rs72651657
NM_000088.4(COL1A1):c.2336G>T (p.Gly779Val) rs2144556146
NM_000088.4(COL1A1):c.2397dup (p.Gly800fs) rs1906989648
NM_000088.4(COL1A1):c.2398-1G>C rs193922147
NM_000088.4(COL1A1):c.2418del (p.Gly809fs) rs193922148
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2450_2451insG (p.Gly818fs)
NM_000088.4(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.4(COL1A1):c.2483_2485delinsG (p.Glu828fs)
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp) rs1906940342
NM_000088.4(COL1A1):c.2507G>A (p.Gly836Asp) rs72653130
NM_000088.4(COL1A1):c.2525dup (p.Ala844fs) rs1114167392
NM_000088.4(COL1A1):c.2559+5G>T
NM_000088.4(COL1A1):c.2567_2569del (p.Val856del)
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys) rs72653141
NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp)
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu) rs72653142
NM_000088.4(COL1A1):c.2586del (p.Gly863fs) rs1598289920
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala) rs2144551547
NM_000088.4(COL1A1):c.2667+1_2667+2del rs2144551340
NM_000088.4(COL1A1):c.2668-2A>G rs2144550759
NM_000088.4(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.4(COL1A1):c.2758G>A (p.Gly920Ser) rs2144550235
NM_000088.4(COL1A1):c.2781_2789dup (p.Pro930_Ala931insProGlyPro)
NM_000088.4(COL1A1):c.2783del (p.Pro928fs)
NM_000088.4(COL1A1):c.2821G>A (p.Gly941Ser)
NM_000088.4(COL1A1):c.2830-3A>G rs1906853874
NM_000088.4(COL1A1):c.2858G>T (p.Gly953Val)
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
NM_000088.4(COL1A1):c.2867G>C (p.Gly956Ala) rs2144549155
NM_000088.4(COL1A1):c.2897A>G (p.Gln966Arg) rs193922152
NM_000088.4(COL1A1):c.2901_2902del (p.Gly968fs) rs1555572406
NM_000088.4(COL1A1):c.2929G>A (p.Gly977Ser)
NM_000088.4(COL1A1):c.2938-1G>A
NM_000088.4(COL1A1):c.2947G>A (p.Gly983Ser) rs2144548099
NM_000088.4(COL1A1):c.295_298+4dup rs2144593648
NM_000088.4(COL1A1):c.2974G>A (p.Gly992Ser)
NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala) rs1598288656
NM_000088.4(COL1A1):c.298G>T (p.Glu100Ter) rs2144593675
NM_000088.4(COL1A1):c.2990dup (p.Gly998fs) rs1598288648
NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala) rs1598288634
NM_000088.4(COL1A1):c.299_300delAG rs193922154
NM_000088.4(COL1A1):c.3001G>A (p.Gly1001Ser)
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs) rs2144547648
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser) rs72653169
NM_000088.4(COL1A1):c.3119G>C (p.Gly1040Ala)
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala) rs1906767501
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.4(COL1A1):c.316dup (p.Glu106fs)
NM_000088.4(COL1A1):c.3182G>C (p.Gly1061Ala) rs72654797
NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)
NM_000088.4(COL1A1):c.3207+1_3207+2del rs1064796200
NM_000088.4(COL1A1):c.3208-56_3215del
NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp) rs1275118660
NM_000088.4(COL1A1):c.3245del (p.Gly1082fs) rs1555572161
NM_000088.4(COL1A1):c.3261+1G>A rs2144543339
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter) rs2144542850
NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala) rs2144542715
NM_000088.4(COL1A1):c.3316G>T (p.Gly1106Cys) rs2144542487
NM_000088.4(COL1A1):c.334-9A>G rs1567764387
NM_000088.4(COL1A1):c.3347_3364del (p.Leu1116_Gly1121del) rs2144542232
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.4(COL1A1):c.3369+5G>C rs1555572075
NM_000088.4(COL1A1):c.3389G>A (p.Gly1130Asp) rs1567753699
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu) rs1906659084
NM_000088.4(COL1A1):c.3407G>C (p.Gly1136Ala) rs1555572013
NM_000088.4(COL1A1):c.3425G>T (p.Gly1142Val) rs1567753448
NM_000088.4(COL1A1):c.3434G>T (p.Gly1145Val)
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.3531+1G>A rs72656326
NM_000088.4(COL1A1):c.3552_3560del (p.1178GPP[4])
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly) rs2144537008
NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp)
NM_000088.4(COL1A1):c.370-2A>G rs193922155
NM_000088.4(COL1A1):c.370-2A>T
NM_000088.4(COL1A1):c.3721del (p.Gln1241fs)
NM_000088.4(COL1A1):c.3769del (p.Arg1257fs) rs1906559620
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser) rs1906537608
NM_000088.4(COL1A1):c.3825G>T (p.Trp1275Cys)
NM_000088.4(COL1A1):c.3871T>G (p.Cys1291Gly) rs2144534929
NM_000088.4(COL1A1):c.3880dup (p.Glu1294fs)
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
NM_000088.4(COL1A1):c.3967C>T (p.His1323Tyr)
NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys) rs2144534276
NM_000088.4(COL1A1):c.3994del (p.Asp1332fs)
NM_000088.4(COL1A1):c.409C>T (p.Gln137Ter)
NM_000088.4(COL1A1):c.4103A>G (p.Tyr1368Cys)
NM_000088.4(COL1A1):c.4166T>C (p.Leu1389Pro) rs2144531821
NM_000088.4(COL1A1):c.4183G>T (p.Glu1395Ter)
NM_000088.4(COL1A1):c.4193T>G (p.Ile1398Ser)
NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn) rs72656349
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000088.4(COL1A1):c.4339del (p.Val1447fs) rs1567751388
NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg)
NM_000088.4(COL1A1):c.4343G>A (p.Gly1448Asp) rs2144529623
NM_000088.4(COL1A1):c.4352_4356del (p.Asp1451fs)
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.4(COL1A1):c.543+2T>C rs2144588834
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.4(COL1A1):c.544-2del rs2144587964
NM_000088.4(COL1A1):c.544G>T (p.Gly182Cys)
NM_000088.4(COL1A1):c.545G>T (p.Gly182Val)
NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala) rs67828806
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val) rs67828806
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val) rs72667028
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp) rs72667031
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala)
NM_000088.4(COL1A1):c.617G>T (p.Gly206Val) rs1598300054
NM_000088.4(COL1A1):c.625G>A (p.Gly209Ser) rs2144586877
NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala) rs1907746069
NM_000088.4(COL1A1):c.643-1G>A rs2144586155
NM_000088.4(COL1A1):c.644G>T (p.Gly215Val) rs1907723511
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.4(COL1A1):c.679G>A (p.Gly227Arg) rs1567763007
NM_000088.4(COL1A1):c.680G>A (p.Gly227Glu) rs2144585835
NM_000088.4(COL1A1):c.82_103+11del rs2144600020
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.958-1G>A rs72645352
NM_000088.4(COL1A1):c.958-1G>C rs72645352
NM_000088.4(COL1A1):c.958G>T (p.Gly320Cys) rs2144580035
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg) rs72645355
NM_000088.4(COL1A1):c.977dup (p.Ala327fs) rs2144579919
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val) rs762653813
NM_000088.4(COL1A1):c.994_1001del (p.Gly332fs) rs2144579745

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