ClinVar Miner

List of variants in gene COL1A1 reported as likely benign for Infantile cortical hyperostosis

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Total variants: 20
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HGVS dbSNP
NM_000088.3(COL1A1):c.*1175T>G rs75713851
NM_000088.3(COL1A1):c.*1233G>A rs73987442
NM_000088.3(COL1A1):c.*1265C>T rs567249120
NM_000088.3(COL1A1):c.*243_*244dup rs56302025
NM_000088.3(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.3(COL1A1):c.*744C>T rs1061947
NM_000088.3(COL1A1):c.*88T>C rs1061237
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1930-14T>C rs2696247
NM_000088.3(COL1A1):c.2298T>C (p.Thr766=) rs2734272
NM_000088.3(COL1A1):c.2613+14G>A rs41316685
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.859-14T>G rs17639446

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