ClinVar Miner

List of variants in gene COL1A1 reported as pathogenic by Athena Diagnostics Inc

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_000088.3(COL1A1):c.1121G>C (p.Gly374Ala) rs1555574143
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1614+1G>C
NM_000088.3(COL1A1):c.1652del (p.Gly551Alafs) rs1555573684
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.2685delT (p.Gly896Alafs) rs193922151
NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.3(COL1A1):c.3131_3133delCCCinsT (p.Pro1044Leufs)
NM_000088.3(COL1A1):c.3150_3158delTCCTGGTGC (p.Ala1053_Gly1055del) rs74315111
NM_000088.3(COL1A1):c.3188_3190delGTGins13 (p.?)
NM_000088.3(COL1A1):c.3360delT (p.Gly1121Alafs) rs1260429820
NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.3(COL1A1):c.805-36_810del rs1555574450
NM_000088.3(COL1A1):c.868G>C (p.Gly290Arg) rs1555574410

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