ClinVar Miner

List of variants in gene COL11A2 reported as likely pathogenic

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Total variants: 15
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HGVS dbSNP
NM_080679.2(COL11A2):c.1398+3dup rs1554220864
NM_080679.2(COL11A2):c.1540C>A (p.Pro514Thr) rs121912952
NM_080679.2(COL11A2):c.1558C>T (p.Arg520Ter) rs374156844
NM_080679.2(COL11A2):c.1858G>T (p.Gly620Ter) rs768569721
NM_080679.2(COL11A2):c.1947+1G>T rs797044915
NM_080679.2(COL11A2):c.2262+1G>A rs1554218503
NM_080679.2(COL11A2):c.2433del (p.Gly812fs) rs1562336726
NM_080679.2(COL11A2):c.2737C>T (p.Arg913Ter) rs911722283
NM_080679.2(COL11A2):c.2779C>T (p.Arg927Cys) rs121912947
NM_080679.2(COL11A2):c.3814C>T (p.Arg1272Ter) rs121912950
NM_080679.2(COL11A2):c.3899del (p.Lys1300fs) rs1562312539
NM_080679.2(COL11A2):c.4109G>T (p.Gly1370Val) rs745434198
NM_080679.2(COL11A2):c.529C>T (p.Arg177Ter) rs764450149
NM_080679.2(COL11A2):c.654T>A (p.Tyr218Ter) rs786205578
NM_080679.2(COL11A2):c.798+2345C>T rs1554223504

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