ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_001854.3(COL11A1):c.652-6dupT rs36076089
NM_001854.3(COL11A1):c.652-7_652-6delTT rs36076089
NM_001854.4(COL11A1):c.1308+19A>G rs34587338
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420
NM_001854.4(COL11A1):c.1944+11T>C rs71664954
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841
NM_001854.4(COL11A1):c.3979-3T>C rs138464908
NM_001854.4(COL11A1):c.4140+10A>T rs187171126
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966
NM_080629.2(COL11A1):c.2179-10dupT rs747240373

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