ClinVar Miner

List of variants studied for Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe)	rs139437119	0.00061
NM_018060.4(IARS2):c.601C>T (p.Arg201Cys)	rs768101579	0.00001
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)	rs373436822

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