ClinVar Miner

List of variants in gene IARS2 reported as likely benign for Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) rs143722284 0.00089
NM_018060.4(IARS2):c.1328-5dup rs199649609

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