ClinVar Miner

List of variants reported as not provided for autosomal dominant nonsyndromic hearing loss 13 by GenomeConnect, ClinGen

Included ClinVar conditions (3):

Autosomal dominant nonsyndromic hearing loss 13
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)	rs376797260	0.00016
NM_080680.3(COL11A2):c.798+67C>T	rs772701006	0.00001

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