ClinVar Miner

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

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_000088.3(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946

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