ClinVar Miner

List of variants in gene COL1A1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP
NC_000017.10:g.(?_48271508)_(48278605_?)dup
NC_000017.10:g.(?_48272388)_(48277328_?)del
NC_000017.11:g.(?_50185482)_(50192870_?)del
NC_000017.11:g.(?_50194701)_(50203629_?)del
NC_000017.11:g.50192023del
NM_000088.3(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580
NM_000088.3(COL1A1):c.1057-1G>A rs1555574177
NM_000088.3(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.3(COL1A1):c.1099C>T (p.Gln367Ter) rs1555574158
NM_000088.3(COL1A1):c.1111G>A (p.Gly371Ser) rs72645368
NM_000088.3(COL1A1):c.1121del (p.Gly374fs) rs1555574144
NM_000088.3(COL1A1):c.1128del (p.Gly377fs) rs72645370
NM_000088.3(COL1A1):c.1138G>A (p.Gly380Ser) rs72648313
NM_000088.3(COL1A1):c.1192G>T (p.Gly398Cys) rs72648319
NM_000088.3(COL1A1):c.1192_1199del (p.Gly398fs) rs1567760736
NM_000088.3(COL1A1):c.1200+1G>A rs72648320
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1247del (p.Gly416fs) rs1555574071
NM_000088.3(COL1A1):c.1261C>T (p.Gln421Ter) rs1598296825
NM_000088.3(COL1A1):c.1273G>A (p.Gly425Ser) rs72648330
NM_000088.3(COL1A1):c.1299+1G>A rs66490707
NM_000088.3(COL1A1):c.1354-12G>A rs72648337
NM_000088.3(COL1A1):c.1369C>T (p.Gln457Ter) rs1228746935
NM_000088.3(COL1A1):c.1382del (p.Gly461fs) rs1555573897
NM_000088.3(COL1A1):c.1393G>T (p.Glu465Ter) rs865999256
NM_000088.3(COL1A1):c.1394del (p.Glu465fs) rs1567760123
NM_000088.3(COL1A1):c.1405C>T (p.Arg469Ter) rs762428889
NM_000088.3(COL1A1):c.1414C>T (p.Arg472Ter) rs72648343
NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
NM_000088.3(COL1A1):c.1614+1G>C rs72648357
NM_000088.3(COL1A1):c.1614+2T>A rs1598295482
NM_000088.3(COL1A1):c.1654A>T (p.Lys552Ter) rs1567759402
NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.3(COL1A1):c.1678G>T (p.Gly560Cys) rs67507747
NM_000088.3(COL1A1):c.1703del (p.Pro568fs) rs1555573629
NM_000088.3(COL1A1):c.1770_1771AG[1] (p.Glu591fs) rs1555573484
NM_000088.3(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.1821+1G>C rs66555264
NM_000088.3(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000088.3(COL1A1):c.1865_1866delinsG (p.Pro622fs) rs1598293885
NM_000088.3(COL1A1):c.1930-1G>A rs1555573288
NM_000088.3(COL1A1):c.1A>G (p.Met1Val) rs1555575889
NM_000088.3(COL1A1):c.2010del (p.Gly671fs) rs72651634
NM_000088.3(COL1A1):c.2028+2T>G rs72651635
NM_000088.3(COL1A1):c.2073del (p.Gly692fs) rs72651640
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2127+1G>A rs1181095991
NM_000088.3(COL1A1):c.2127+2T>A rs72651644
NM_000088.3(COL1A1):c.2128-1G>C rs67543897
NM_000088.3(COL1A1):c.212dup (p.Asp71fs) rs1567764832
NM_000088.3(COL1A1):c.2139del (p.Ala714fs) rs1555573039
NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000088.3(COL1A1):c.2172del (p.Gly725fs) rs1567757138
NM_000088.3(COL1A1):c.2217del (p.Pro741fs) rs1555573004
NM_000088.3(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658
NM_000088.3(COL1A1):c.229G>T (p.Glu77Ter) rs753683126
NM_000088.3(COL1A1):c.2344-1G>A rs1567756567
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.2424_2425insCG (p.Gly809fs) rs1567756357
NM_000088.3(COL1A1):c.2424del (p.Gly809fs) rs1114167391
NM_000088.3(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.3(COL1A1):c.2452-1G>C rs72651667
NM_000088.3(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.3(COL1A1):c.2533G>A (p.Gly845Arg) rs72653136
NM_000088.3(COL1A1):c.2534G>C (p.Gly845Ala) rs1555572640
NM_000088.3(COL1A1):c.2550del (p.Gly851fs) rs1114167380
NM_000088.3(COL1A1):c.2560G>C (p.Gly854Arg) rs72653140
NM_000088.3(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.3(COL1A1):c.262G>T (p.Glu88Ter) rs1555575370
NM_000088.3(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.3(COL1A1):c.2667+1G>A rs72653150
NM_000088.3(COL1A1):c.2684del (p.Pro895fs) rs72653151
NM_000088.3(COL1A1):c.2684dup (p.Gly896fs) rs72653151
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.3(COL1A1):c.2783_2788delinsTGGCG (p.Pro928fs) rs1555572456
NM_000088.3(COL1A1):c.2784del (p.Gly929fs) rs72653155
NM_000088.3(COL1A1):c.2830-1G>A rs111594467
NM_000088.3(COL1A1):c.2904_2905AG[2] (p.Arg970fs) rs1555572401
NM_000088.3(COL1A1):c.2T>C (p.Met1Thr) rs1567766338
NM_000088.3(COL1A1):c.3008del (p.Pro1003fs) rs72653168
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.3045+1G>A rs1114167382
NM_000088.3(COL1A1):c.3046-2A>T rs72653171
NM_000088.3(COL1A1):c.3061G>T (p.Glu1021Ter) rs139593707
NM_000088.3(COL1A1):c.3065G>C (p.Gly1022Ala) rs67771061
NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.3(COL1A1):c.3207+1G>A rs1555572239
NM_000088.3(COL1A1):c.3207+1G>C rs1555572239
NM_000088.3(COL1A1):c.3225del (p.Gly1076fs) rs1567754277
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.3(COL1A1):c.3283_3284dup (p.Asp1095fs) rs1555572121
NM_000088.3(COL1A1):c.3285dup (p.Lys1096fs) rs1555572120
NM_000088.3(COL1A1):c.3301G>T (p.Glu1101Ter) rs867628651
NM_000088.3(COL1A1):c.334-1G>A rs1598301459
NM_000088.3(COL1A1):c.334-9A>G rs1567764387
NM_000088.3(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.3(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314
NM_000088.3(COL1A1):c.3431dup (p.Gly1145fs) rs1555571942
NM_000088.3(COL1A1):c.3487G>A (p.Gly1163Arg) rs1567753329
NM_000088.3(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.3(COL1A1):c.3496G>A (p.Gly1166Ser) rs72656324
NM_000088.3(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.3(COL1A1):c.3531+1G>A rs72656326
NM_000088.3(COL1A1):c.3540dup (p.Gly1181fs) rs1555571874
NM_000088.3(COL1A1):c.3566dup (p.Gly1190fs) rs1567753046
NM_000088.3(COL1A1):c.3567del (p.Gly1190fs) rs886042286
NM_000088.3(COL1A1):c.3593del (p.Phe1198fs) rs1567752998
NM_000088.3(COL1A1):c.3641del (p.Arg1214fs) rs1567752926
NM_000088.3(COL1A1):c.3647A>G (p.Tyr1216Cys) rs1555571849
NM_000088.3(COL1A1):c.3790A>G (p.Met1264Val) rs72656340
NM_000088.3(COL1A1):c.3815_3819delGAGAG rs1598285125
NM_000088.3(COL1A1):c.3820_3821dup (p.Trp1275fs) rs1598285120
NM_000088.3(COL1A1):c.3825G>A (p.Trp1275Ter) rs1555571766
NM_000088.3(COL1A1):c.387del (p.Gly130fs) rs1555575086
NM_000088.3(COL1A1):c.3936G>A (p.Trp1312Ter) rs72656343
NM_000088.3(COL1A1):c.3G>A (p.Met1Ile) rs1567766329
NM_000088.3(COL1A1):c.4081G>T (p.Glu1361Ter) rs141011435
NM_000088.3(COL1A1):c.4090C>T (p.Gln1364Ter) rs1555571647
NM_000088.3(COL1A1):c.4321_4327dup (p.Ala1443fs) rs1555571529
NM_000088.3(COL1A1):c.4329_4332dup (p.Leu1445fs) rs1114167405
NM_000088.3(COL1A1):c.432dup (p.Gly145fs) rs72667016
NM_000088.3(COL1A1):c.481_499dup (p.Tyr167fs) rs1555574871
NM_000088.3(COL1A1):c.563_564delinsA (p.Gly188fs) rs1555574802
NM_000088.3(COL1A1):c.571G>A (p.Gly191Ser) rs1567763451
NM_000088.3(COL1A1):c.572del (p.Gly191fs) rs1567763447
NM_000088.3(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.3(COL1A1):c.599G>T (p.Gly200Val) rs72667029
NM_000088.3(COL1A1):c.608G>T (p.Gly203Val) rs72667031
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.3(COL1A1):c.661G>A (p.Gly221Ser) rs72667037
NM_000088.3(COL1A1):c.678del (p.Gly227fs) rs1555574638
NM_000088.3(COL1A1):c.697-1G>A rs67163049
NM_000088.3(COL1A1):c.697-1G>C rs67163049
NM_000088.3(COL1A1):c.731_732insC (p.Gly245fs) rs1555574553
NM_000088.3(COL1A1):c.751-1G>A rs1555574516
NM_000088.3(COL1A1):c.757C>T (p.Arg253Ter) rs72645318
NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.3(COL1A1):c.770del (p.Gly257fs) rs1555574497
NM_000088.3(COL1A1):c.779G>T (p.Gly260Val) rs1598299070
NM_000088.3(COL1A1):c.796G>C (p.Gly266Arg) rs1555574493
NM_000088.3(COL1A1):c.799_802del (p.His267fs) rs1567762262
NM_000088.3(COL1A1):c.802A>T (p.Arg268Ter) rs1567762257
NM_000088.3(COL1A1):c.823G>T (p.Gly275Cys) rs72645332
NM_000088.3(COL1A1):c.841_848del (p.Gly281fs) rs1567761950
NM_000088.3(COL1A1):c.862G>T (p.Glu288Ter) rs72645341
NM_000088.3(COL1A1):c.903+1G>A rs1298621011
NM_000088.3(COL1A1):c.903+2T>A rs1598298449
NM_000088.3(COL1A1):c.920_926delinsTGAGAGGT (p.Pro307fs) rs1567761649
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.962dup (p.Arg322fs) rs1555574319
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000088.4(COL1A1):c.103+2T>C
NM_000088.4(COL1A1):c.1042_1043dup (p.Val349fs)
NM_000088.4(COL1A1):c.1127del (p.Pro376fs)
NM_000088.4(COL1A1):c.1305del (p.Glu435fs)
NM_000088.4(COL1A1):c.1335_1336del (p.Gly446fs)
NM_000088.4(COL1A1):c.1454G>C (p.Gly485Ala)
NM_000088.4(COL1A1):c.1562del (p.Gly521fs)
NM_000088.4(COL1A1):c.1713_1720del (p.Gly572fs)
NM_000088.4(COL1A1):c.1768-1G>A
NM_000088.4(COL1A1):c.1821+1G>T
NM_000088.4(COL1A1):c.1853_1857del (p.Ala618fs)
NM_000088.4(COL1A1):c.2058_2062del (p.Val687fs)
NM_000088.4(COL1A1):c.2084del (p.Gly695fs)
NM_000088.4(COL1A1):c.2128-1G>A
NM_000088.4(COL1A1):c.2128-1G>T
NM_000088.4(COL1A1):c.2155G>T (p.Gly719Cys)
NM_000088.4(COL1A1):c.2236-1G>C
NM_000088.4(COL1A1):c.2253del (p.Gly752fs) rs1598291438
NM_000088.4(COL1A1):c.2397del (p.Gly800fs)
NM_000088.4(COL1A1):c.2444del (p.Gly815fs)
NM_000088.4(COL1A1):c.2450dup (p.Gly818fs) rs193922149
NM_000088.4(COL1A1):c.2452-1G>A
NM_000088.4(COL1A1):c.2522del (p.Pro841fs)
NM_000088.4(COL1A1):c.2523del (p.Gly842fs) rs72653133
NM_000088.4(COL1A1):c.2673dup (p.Ala892fs)
NM_000088.4(COL1A1):c.2717dup (p.Lys907fs) rs1598289365
NM_000088.4(COL1A1):c.276T>A (p.Cys92Ter)
NM_000088.4(COL1A1):c.2774del (p.Pro925fs)
NM_000088.4(COL1A1):c.2888_2889del (p.Leu963fs)
NM_000088.4(COL1A1):c.2900del (p.Arg967fs)
NM_000088.4(COL1A1):c.2928del (p.Gly977fs)
NM_000088.4(COL1A1):c.2935del (p.Ser979fs)
NM_000088.4(COL1A1):c.2985del (p.Pro997fs)
NM_000088.4(COL1A1):c.3002del (p.Gly1001fs) rs1598288593
NM_000088.4(COL1A1):c.3100-1G>A
NM_000088.4(COL1A1):c.310_313del (p.Asp104fs)
NM_000088.4(COL1A1):c.3114dup (p.Thr1039fs) rs1598288070
NM_000088.4(COL1A1):c.3369+1G>A
NM_000088.4(COL1A1):c.3399del (p.Ala1134fs)
NM_000088.4(COL1A1):c.3451G>A (p.Gly1151Ser)
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter) rs762979302
NM_000088.4(COL1A1):c.3652G>A (p.Ala1218Thr)
NM_000088.4(COL1A1):c.3749del (p.Gly1250fs)
NM_000088.4(COL1A1):c.3768_3769dup (p.Arg1257fs)
NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter)
NM_000088.4(COL1A1):c.3824G>A (p.Trp1275Ter)
NM_000088.4(COL1A1):c.386del (p.Pro129fs) rs72667014
NM_000088.4(COL1A1):c.391C>T (p.Arg131Ter)
NM_000088.4(COL1A1):c.4014del (p.Glu1337_Tyr1338insTer)
NM_000088.4(COL1A1):c.4163T>C (p.Leu1388Pro)
NM_000088.4(COL1A1):c.4248+2T>C
NM_000088.4(COL1A1):c.4321G>C (p.Asp1441His)
NM_000088.4(COL1A1):c.4321G>T (p.Asp1441Tyr)
NM_000088.4(COL1A1):c.4325_4347del (p.Val1442fs)
NM_000088.4(COL1A1):c.441del (p.Gly148fs) rs1473458290
NM_000088.4(COL1A1):c.458del (p.Pro153fs) rs1114167407
NM_000088.4(COL1A1):c.510del (p.Lys170fs)
NM_000088.4(COL1A1):c.543+5G>A
NM_000088.4(COL1A1):c.578dup (p.Gly194fs) rs1598300304
NM_000088.4(COL1A1):c.607G>A (p.Gly203Ser)
NM_000088.4(COL1A1):c.71del (p.Glu24fs)
NM_000088.4(COL1A1):c.750+2T>C
NM_000088.4(COL1A1):c.833_834delinsTT (p.Gly278Val)
NM_000088.4(COL1A1):c.859-2A>G

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