ClinVar Miner

List of variants in gene COL1A1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 46
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HGVS dbSNP
NM_000088.3(COL1A1):c.1013G>T (p.Gly338Val) rs1555574249
NM_000088.3(COL1A1):c.1121G>C (p.Gly374Ala) rs1555574143
NM_000088.3(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1614+1G>C
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1652del (p.Gly551fs) rs1555573684
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1803C>T (p.Pro601=) rs148275339
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1929+4A>C rs376244140
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2175C>T (p.Gly725=) rs35017779
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.2560-18C>G rs2075559
NM_000088.3(COL1A1):c.256del (p.Val86fs) rs1567764772
NM_000088.3(COL1A1):c.2613+13C>T rs368380161
NM_000088.3(COL1A1):c.2668-12A>G rs200355573
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.299-20C>G rs2256835
NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3131_3133delinsT (p.Pro1044fs) rs1567754639
NM_000088.3(COL1A1):c.3141_3149TCCTGGTGC[1] (p.1047_1049APG[2]) rs74315111
NM_000088.3(COL1A1):c.3188_3190delGTGins13 (p.?)
NM_000088.3(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3823T>C (p.Trp1275Arg) rs1555571769
NM_000088.3(COL1A1):c.4113G>A (p.Lys1371=) rs41316723
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.4281T>C (p.Ile1427=) rs41316725
NM_000088.3(COL1A1):c.649A>T (p.Met217Leu) rs763409550
NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.3(COL1A1):c.805-36_810del rs1555574450
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000088.3(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT rs1555574417
NM_000088.3(COL1A1):c.868G>C (p.Gly290Arg) rs1555574410
NM_000088.3(COL1A1):c.904-9G>T rs141726413

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