ClinVar Miner

List of variants in gene COL11A2 reported as pathogenic

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Total variants: 20
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HGVS dbSNP
COL11A2, 9-BP DEL, NT2899
COL11A2, IVS18, 1-BP INS, +3
NM_080680.2(COL11A2):c.109G>T (p.Ala37Ser) rs606231410
NM_080680.2(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952
NM_080680.2(COL11A2):c.190C>T (p.Arg64Ter) rs1554226209
NM_080680.2(COL11A2):c.1981G>A (p.Gly661Arg) rs121912945
NM_080680.2(COL11A2):c.2081_2085delGGAAGinsA (p.Gly694Glufs) rs886044584
NM_080680.2(COL11A2):c.2423G>A (p.Gly808Glu) rs121912948
NM_080680.2(COL11A2):c.2492C>A (p.Ser831Ter) rs121912949
NM_080680.2(COL11A2):c.2662C>A (p.Pro888Thr) rs864309523
NM_080680.2(COL11A2):c.2822_2848del27 (p.Glu941_Pro950delinsAla) rs864309477
NM_080680.2(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.2(COL11A2):c.339_340delCCinsG (p.Leu114Trpfs) rs1554225999
NM_080680.2(COL11A2):c.3877C>T (p.Arg1293Ter) rs746754428
NM_080680.2(COL11A2):c.3962delG (p.Gly1321Valfs)
NM_080680.2(COL11A2):c.3991C>T (p.Arg1331Ter) rs121912951
NM_080680.2(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_080680.2(COL11A2):c.4322G>A (p.Gly1441Glu) rs121912946
NM_080680.2(COL11A2):c.4392+1G>A rs750995470
NM_080680.2(COL11A2):c.966dup (p.Thr323Hisfs) rs748440351

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