ClinVar Miner

List of variants in gene COL11A1 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 6
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NM_001854.4(COL11A1):c.3168+1G>T rs886042653
NM_001854.4(COL11A1):c.3709-1G>A rs727503881
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.4032+1G>A rs1553200868
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.4(COL11A1):c.4554+1G>C rs886044244

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