List of variants in gene COL11A1 reported as likely pathogenic for autosomal dominant nonsyndromic hearing loss

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.1245+1G>A	rs766849561	0.00005
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)	rs758825857
NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter)	rs2101794024
NM_001854.4(COL11A1):c.3168+1G>A	rs886042653
NM_001854.4(COL11A1):c.3600+2T>C
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	rs750291363
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	rs763199410
NM_001854.4(COL11A1):c.4356G>A (p.Lys1452=)

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