ClinVar Miner

List of variants in gene COL1A1 reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_000088.3(COL1A1):c.-161C>T
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1005T>A (p.Gly335=) rs375914028
NM_000088.3(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1803C>T (p.Pro601=) rs148275339
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1930-14T>C rs2696247
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2560-18C>G rs2075559
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3223= (p.Ala1075=) rs1800215
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.3531+10C>A rs41316721
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.904-9G>T rs141726413

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