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

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: 64

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)	rs193922150	0.00011
NM_000088.4(COL1A1):c.1002+5G>T	rs1907566530
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys)	rs193922137
NM_000088.4(COL1A1):c.1057-2A>T	rs66511271
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.1235C>G (p.Pro412Arg)	rs193922138
NM_000088.4(COL1A1):c.1299+5G>A	rs193922139
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala)	rs193922140
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.1732G>A (p.Gly578Ser)	rs1907330109
NM_000088.4(COL1A1):c.1745del (p.Phe582fs)	rs2144569160
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)	rs193922143
NM_000088.4(COL1A1):c.1862_1865del (p.Pro621fs)	rs72651620
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg)	rs72651626
NM_000088.4(COL1A1):c.2045del (p.Pro682fs)	rs2144560659
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)	rs193922144
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys)	rs1907108266
NM_000088.4(COL1A1):c.2097del (p.Asn700fs)	rs72651643
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter)	rs193922145
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.2450del (p.Pro817fs)	rs193922149
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser)	rs1598290382
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.2569G>T (p.Gly857Cys)	rs72653141
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu)	rs72653142
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.2897A>G (p.Gln966Arg)	rs193922152
NM_000088.4(COL1A1):c.2901_2902del (p.Gly968fs)	rs1555572406
NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala)	rs1598288656
NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala)	rs1598288634
NM_000088.4(COL1A1):c.299_300delAG	rs193922154
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs)	rs2144547648
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly)	rs74315111
NM_000088.4(COL1A1):c.3182G>C (p.Gly1061Ala)	rs72654797
NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)
NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp)	rs1275118660
NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala)	rs2144542715
NM_000088.4(COL1A1):c.334-9A>G	rs1567764387
NM_000088.4(COL1A1):c.3425G>T (p.Gly1142Val)	rs1567753448
NM_000088.4(COL1A1):c.3531+1G>A	rs72656326
NM_000088.4(COL1A1):c.370-2A>G	rs193922155
NM_000088.4(COL1A1):c.3871T>G (p.Cys1291Gly)	rs2144534929
NM_000088.4(COL1A1):c.4339del (p.Val1447fs)	rs1567751388
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter)	rs193922157
NM_000088.4(COL1A1):c.543+2T>C	rs2144588834
NM_000088.4(COL1A1):c.579del (p.Gly194fs)	rs72667023
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala)
NM_000088.4(COL1A1):c.617G>T (p.Gly206Val)	rs1598300054
NM_000088.4(COL1A1):c.958-1G>C	rs72645352
NM_000088.4(COL1A1):c.977dup (p.Ala327fs)	rs2144579919
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val)	rs762653813
NM_000088.4(COL1A1):c.994_1001del (p.Gly332fs)	rs2144579745

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