List of variants in gene COL11A2 reported as likely pathogenic for otospondylomegaepiphyseal dysplasia, autosomal dominant

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)	rs911722283	0.00002
NM_080680.3(COL11A2):c.2690del (p.Pro897fs)	rs2150555528
NM_080680.3(COL11A2):c.3582+4A>G
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	rs748440351

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