ClinVar Miner

List of variants in gene COL11A1 reported as likely pathogenic for not provided

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Total variants: 15
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NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer) rs1343199316
NM_001854.4(COL11A1):c.162del (p.Ser55fs)
NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp) rs886044242
NM_001854.4(COL11A1):c.2485_2486insAAG (p.Gly829_Gln830insGlu) rs1553227204
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu) rs1557891760
NM_001854.4(COL11A1):c.2808+1G>A rs1553223152
NM_001854.4(COL11A1):c.3647G>A (p.Gly1216Asp)
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.3998_4009del (p.Gly1333_Gly1336del) rs886042660
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp) rs1553193913
NM_001854.4(COL11A1):c.4660dup (p.Thr1554fs)
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_001854.4(COL11A1):c.867del (p.Thr289_Val290insTer)

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