ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_001854.3(COL11A1):c.2485_2486insAAG (p.Ser828_Gly829insGlu) rs1553227204
NM_001854.3(COL11A1):c.2808+1G>A rs1553223152
NM_001854.3(COL11A1):c.3816+5G>A rs1057524237
NM_001854.3(COL11A1):c.4538G>A (p.Gly1513Asp) rs1553193913
NM_001854.4(COL11A1):c.3647G>A (p.Gly1216Asp)
NM_001854.4(COL11A1):c.867del (p.Val290Terfs)
NM_080629.2(COL11A1):c.1226dup (p.Asn410Terfs) rs1343199316
NM_080629.2(COL11A1):c.2405G>A (p.Gly802Asp) rs886044242
NM_080629.2(COL11A1):c.2828G>A (p.Gly943Glu)
NM_080629.2(COL11A1):c.4034_4045delGTGACAAGGGTG (p.Gly1345_Gly1348del) rs886042660
NM_080629.2(COL11A1):c.4338+2T>C rs1553196233
NM_080629.2(COL11A1):c.652-1G>C rs1064797115

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