ClinVar Miner

List of variants reported as likely pathogenic for NMNAT1-related retinopathy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (4):

Leber congenital amaurosis 9
Leber congenital amaurosis 9; Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
NMNAT1-related retinopathy
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

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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_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)	rs375110174	0.00001
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)	rs986437232

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