List of variants in gene COL11A2 reported as pathogenic for autosomal dominant nonsyndromic hearing loss 13

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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: 6

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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.1297C>T (p.Arg433Ter)
NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu)	rs121912948
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)	rs121912947
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	rs748440351

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