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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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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.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.1011_1019del (p.Ala340_Pro342del)
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)
NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg)	rs1567760604
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.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.1664C>G (p.Pro555Arg)	rs72648359
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)	rs1907330109
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.1929+1_1929+6del
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.2291G>C (p.Gly764Ala)	rs72651657
NM_000088.4(COL1A1):c.2450_2451insG (p.Gly818fs)
NM_000088.4(COL1A1):c.2483_2485delinsG (p.Glu828fs)
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp)	rs1906940342
NM_000088.4(COL1A1):c.2559+5G>T
NM_000088.4(COL1A1):c.2567_2569del (p.Val856del)
NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp)
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)
NM_000088.4(COL1A1):c.2783del (p.Pro928fs)
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)
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.298G>T (p.Glu100Ter)	rs2144593675
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala)	rs1906767501
NM_000088.4(COL1A1):c.316dup (p.Glu106fs)
NM_000088.4(COL1A1):c.3208-56_3215del
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.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.370-2A>T
NM_000088.4(COL1A1):c.3721del (p.Gln1241fs)
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser)	rs1906537608
NM_000088.4(COL1A1):c.3825G>T (p.Trp1275Cys)
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.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.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.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.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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