List of variants in gene COL11A2 reported as likely pathogenic for auditory system disorder

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: 9

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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.2087_2090del (p.Glu696fs)	rs1583335192
NM_080680.3(COL11A2):c.2754del (p.Gly919fs)	rs1562336726
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)	rs550153707
NM_080680.3(COL11A2):c.3852+1G>T
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)	rs121912950
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter)	rs1404134749
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)	rs745434198
NM_080680.3(COL11A2):c.968dup (p.Ala324fs)	rs1583366400

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