ClinVar Miner

List of variants reported as uncertain significance for Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu)	rs747014267

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