ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic for Osteogenesis imperfecta type I

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Gene type:
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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00020
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn) rs72656351 0.00003
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu) rs780472683 0.00001
NM_000088.4(COL1A1):c.544G>T (p.Gly182Cys) rs1439626978 0.00001
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>C
NM_000088.4(COL1A1):c.1011_1019del (p.Ala340_Pro342del) rs2509231757
NM_000088.4(COL1A1):c.103+5G>A rs1555575835
NM_000088.4(COL1A1):c.103+5G>C rs1555575835
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser) rs1907516553
NM_000088.4(COL1A1):c.1200+2dup rs1555574113
NM_000088.4(COL1A1):c.1229G>C (p.Gly410Ala) rs2509226176
NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg) rs1567760604
NM_000088.4(COL1A1):c.1251del (p.Ser418fs)
NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala) rs72648333
NM_000088.4(COL1A1):c.1354-1G>C rs112101899
NM_000088.4(COL1A1):c.1354-6_1359del rs2509222757
NM_000088.4(COL1A1):c.141C>G (p.Tyr47Ter) rs2509259501
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val) rs2509222123
NM_000088.4(COL1A1):c.1453G>A (p.Gly485Ser) rs1420322445
NM_000088.4(COL1A1):c.1461+2T>G rs1907417140
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.4(COL1A1):c.1516-5A>G rs2509219496
NM_000088.4(COL1A1):c.1517G>A (p.Gly506Asp) rs2509219436
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) rs72648359
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala) rs1598295066
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser) rs1907330109
NM_000088.4(COL1A1):c.1760G>C (p.Gly587Ala) rs72648368
NM_000088.4(COL1A1):c.1811del (p.Pro604fs) rs2509209539
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.1821+1del rs2509209389
NM_000088.4(COL1A1):c.1832G>A (p.Gly611Asp) rs2509208266
NM_000088.4(COL1A1):c.1929+1_1929+6del rs2509206593
NM_000088.4(COL1A1):c.1994G>C (p.Gly665Ala)
NM_000088.4(COL1A1):c.2032G>T (p.Glu678Ter)
NM_000088.4(COL1A1):c.2037_2038del (p.Gly680fs)
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del) rs1598302040
NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala) rs1598292524
NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys) rs1567757112
NM_000088.4(COL1A1):c.2235+5G>T rs1907061034
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala) rs72651657
NM_000088.4(COL1A1):c.2400A>G (p.Gly800=) rs1555572759
NM_000088.4(COL1A1):c.2450_2451insG (p.Gly818fs) rs2509190543
NM_000088.4(COL1A1):c.2483_2485delinsG (p.Glu828fs) rs2509188882
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp) rs1906940342
NM_000088.4(COL1A1):c.2532_2540del (p.844AGP[1])
NM_000088.4(COL1A1):c.2559+5G>T rs72653138
NM_000088.4(COL1A1):c.2567_2569del (p.Val856del) rs2509187339
NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp) rs2509187318
NM_000088.4(COL1A1):c.2586del (p.Gly863fs) rs1598289920
NM_000088.4(COL1A1):c.2667+1_2667+2del rs2144551340
NM_000088.4(COL1A1):c.2781_2789dup (p.Pro930_Ala931insProGlyPro) rs2509183659
NM_000088.4(COL1A1):c.2783del (p.Pro928fs) rs2144550040
NM_000088.4(COL1A1):c.2830-3A>G rs1906853874
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
NM_000088.4(COL1A1):c.2929G>A (p.Gly977Ser) rs2509181824
NM_000088.4(COL1A1):c.2938-1G>A rs2509180826
NM_000088.4(COL1A1):c.2947G>A (p.Gly983Ser) rs2144548099
NM_000088.4(COL1A1):c.2947G>T (p.Gly983Cys)
NM_000088.4(COL1A1):c.2956G>A (p.Gly986Ser)
NM_000088.4(COL1A1):c.295_298+4dup rs2144593648
NM_000088.4(COL1A1):c.2974G>A (p.Gly992Ser) rs1906821006
NM_000088.4(COL1A1):c.298G>T (p.Glu100Ter) rs2144593675
NM_000088.4(COL1A1):c.299-1G>T rs1598301619
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val) rs67771061
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala) rs1906767501
NM_000088.4(COL1A1):c.316dup (p.Glu106fs) rs2509256188
NM_000088.4(COL1A1):c.3176dup (p.Ala1060fs) rs2509177148
NM_000088.4(COL1A1):c.3208-56_3215del rs2509174492
NM_000088.4(COL1A1):c.3215del (p.Ala1072fs)
NM_000088.4(COL1A1):c.3245del (p.Gly1082fs) rs1555572161
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter) rs2144542850
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.3407G>C (p.Gly1136Ala) rs1555572013
NM_000088.4(COL1A1):c.3434G>C (p.Gly1145Ala)
NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser) rs1278821174
NM_000088.4(COL1A1):c.3506G>T (p.Gly1169Val)
NM_000088.4(COL1A1):c.3552_3560del (p.1178GPP[4]) rs2509165406
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.370-2A>T rs193922155
NM_000088.4(COL1A1):c.3721del (p.Gln1241fs) rs2509163856
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser) rs1906537608
NM_000088.4(COL1A1):c.3825G>T (p.Trp1275Cys) rs1555571766
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
NM_000088.4(COL1A1):c.3967C>T (p.His1323Tyr) rs72656344
NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys) rs2144534276
NM_000088.4(COL1A1):c.3994del (p.Asp1332fs) rs2509159584
NM_000088.4(COL1A1):c.4099A>T (p.Thr1367Ser)
NM_000088.4(COL1A1):c.409C>T (p.Gln137Ter) rs2509253797
NM_000088.4(COL1A1):c.4103A>G (p.Tyr1368Cys) rs2509156659
NM_000088.4(COL1A1):c.413_419dup (p.Pro141fs) rs2509253729
NM_000088.4(COL1A1):c.4166T>C (p.Leu1389Pro) rs2144531821
NM_000088.4(COL1A1):c.4183G>T (p.Glu1395Ter) rs373474549
NM_000088.4(COL1A1):c.4193T>G (p.Ile1398Ser) rs2509155661
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.4343G>A (p.Gly1448Asp) rs2144529623
NM_000088.4(COL1A1):c.543+5G>C rs1907787005
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.4(COL1A1):c.544-2del rs2144587964
NM_000088.4(COL1A1):c.545G>T (p.Gly182Val) rs762653652
NM_000088.4(COL1A1):c.562G>A (p.Gly188Ser)
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.578dup (p.Gly194fs) rs1598300304
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val) rs72667028
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.683del (p.Lys228fs)
NM_000088.4(COL1A1):c.82_103+11del rs2144600020
NM_000088.4(COL1A1):c.958-1G>A rs72645352
NM_000088.4(COL1A1):c.958G>T (p.Gly320Cys) rs2144580035

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