ClinVar Miner

List of variants in gene COL12A1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 18
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HGVS dbSNP
NM_004370.6(COL12A1):c.1574A>G (p.Tyr525Cys) rs756100330
NM_004370.6(COL12A1):c.2012G>C (p.Gly671Ala) rs1057519171
NM_004370.6(COL12A1):c.341C>A (p.Thr114Lys) rs1473887805
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile) rs201542066
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp)
NM_004370.6(COL12A1):c.3835+4A>G rs187358458
NM_004370.6(COL12A1):c.4000+4C>G rs375772555
NM_004370.6(COL12A1):c.4805C>T (p.Thr1602Ile) rs1249355387
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu)
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met) rs200443479
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp)
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=) rs375760724
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761

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