ClinVar Miner

List of variants in gene COL1A2 reported as likely pathogenic for not provided

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala) rs928361235 0.00001
NM_000089.4(COL1A2):c.2656G>A (p.Gly886Ser) rs886043796 0.00001
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser) rs72659306 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000089.4(COL1A2):c.1036G>A (p.Gly346Ser)
NM_000089.4(COL1A2):c.1069_1070del (p.Ser357fs) rs1131691888
NM_000089.4(COL1A2):c.1081G>A (p.Gly361Ser)
NM_000089.4(COL1A2):c.1135G>A (p.Gly379Arg) rs786205587
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
NM_000089.4(COL1A2):c.1199G>A (p.Gly400Asp)
NM_000089.4(COL1A2):c.1208G>A (p.Gly403Asp) rs1554396271
NM_000089.4(COL1A2):c.1288G>A (p.Gly430Arg)
NM_000089.4(COL1A2):c.1306G>A (p.Gly436Arg) rs2115899372
NM_000089.4(COL1A2):c.133-2A>G
NM_000089.4(COL1A2):c.1349_1350+2del rs2115899670
NM_000089.4(COL1A2):c.1496G>T (p.Gly499Val) rs72658122
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala) rs1791962073
NM_000089.4(COL1A2):c.1685G>A (p.Gly562Asp) rs1791991940
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala) rs794727470
NM_000089.4(COL1A2):c.169G>T (p.Gly57Cys)
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala) rs72658142
NM_000089.4(COL1A2):c.1812del (p.Pro605fs) rs1792043667
NM_000089.4(COL1A2):c.1847G>A (p.Gly616Glu) rs1554397133
NM_000089.4(COL1A2):c.1863+2T>G rs1418151948
NM_000089.4(COL1A2):c.1971+1G>T
NM_000089.4(COL1A2):c.2042_2059del (p.Val681_Pro686del)
NM_000089.4(COL1A2):c.2095GCTGGTCCT[2] (p.699AGP[2]) rs72658162
NM_000089.4(COL1A2):c.2144G>T (p.Gly715Val)
NM_000089.4(COL1A2):c.2189G>T (p.Gly730Val) rs1562905224
NM_000089.4(COL1A2):c.226-2A>G rs72656355
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.4(COL1A2):c.2261G>A (p.Gly754Asp) rs1554397621
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala) rs2115933783
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
NM_000089.4(COL1A2):c.2504G>A (p.Gly835Asp) rs2115941300
NM_000089.4(COL1A2):c.2533dup (p.Glu845fs) rs1584328014
NM_000089.4(COL1A2):c.2584G>A (p.Gly862Ser) rs1554398126
NM_000089.4(COL1A2):c.2675G>T (p.Gly892Val) rs72659304
NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val) rs794727669
NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys) rs72659306
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
NM_000089.4(COL1A2):c.2738G>T (p.Gly913Val) rs886042129
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.4(COL1A2):c.2864G>A (p.Gly955Asp) rs2115952213
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000089.4(COL1A2):c.3116G>A (p.Gly1039Asp) rs72659326
NM_000089.4(COL1A2):c.3196G>A (p.Gly1066Ser) rs1269193853
NM_000089.4(COL1A2):c.324+1G>C
NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn) rs2115959912
NM_000089.4(COL1A2):c.3765del (p.Phe1256fs) rs1584332692
NM_000089.4(COL1A2):c.3793T>C (p.Ser1265Pro) rs886044109
NM_000089.4(COL1A2):c.3987del (p.Ile1329fs) rs1200377228
NM_000089.4(COL1A2):c.401del (p.Pro134fs) rs1057518136
NM_000089.4(COL1A2):c.432+1G>A rs1554395431
NM_000089.4(COL1A2):c.478G>A (p.Gly160Arg)
NM_000089.4(COL1A2):c.506G>A (p.Gly169Glu)
NM_000089.4(COL1A2):c.569G>A (p.Gly190Glu) rs72656369
NM_000089.4(COL1A2):c.594+1G>T rs2115881240
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp) rs1791858238
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)
NM_000089.4(COL1A2):c.982G>T (p.Gly328Cys)

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