ClinVar Miner

List of variants in gene COL12A1 reported as likely pathogenic by GeneDx

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Total variants: 5
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NM_004370.6(COL12A1):c.1840C>T (p.Gln614Ter) rs1562294703
NM_004370.6(COL12A1):c.563C>T (p.Thr188Ile) rs1131691587
NM_004370.6(COL12A1):c.8065G>A (p.Gly2689Arg) rs1554169319
NM_004370.6(COL12A1):c.8265+2T>C rs1064795770
NM_004370.6(COL12A1):c.9142C>T (p.Gln3048Ter) rs1131691933

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