List of variants in gene COL11A2 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)	rs121912952	0.00004
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)	rs121912951	0.00001
NM_080680.3(COL11A2):c.4392+1G>A	rs750995470	0.00001
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser)	rs606231410
NM_080680.3(COL11A2):c.1719+1dup	rs2150577320
NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg)	rs121912945
NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu)	rs121912948
NM_080680.3(COL11A2):c.2492C>A (p.Ser831Ter)	rs121912949
NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr)	rs864309523
NM_080680.3(COL11A2):c.2822_2848del (p.Glu941_Pro950delinsAla)	rs864309477
NM_080680.3(COL11A2):c.2902_2910del (p.Asp968_Gly970del)	rs2150551158
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)	rs121912947
NM_080680.3(COL11A2):c.3962del	rs1562315748
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)	rs121912950
NM_080680.3(COL11A2):c.4322G>A (p.Gly1441Glu)	rs121912946

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