ClinVar Miner

List of variants in gene COL11A2 reported as likely pathogenic for not provided

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Total variants: 12
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NM_080680.3(COL11A2):c.1719+3dup rs1554220864
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter) rs374156844
NM_080680.3(COL11A2):c.2179G>T (p.Gly727Ter) rs768569721
NM_080680.3(COL11A2):c.2583+1G>A rs1554218503
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283
NM_080680.3(COL11A2):c.4220del (p.Lys1407fs) rs1562312539
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg)
NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter) rs764450149
NM_080680.3(COL11A2):c.654T>A (p.Tyr218Ter) rs786205578
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080680.3(COL11A2):c.982C>T (p.Gln328Ter) rs1554223504

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