List of variants reported as pathogenic for Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018060.4(IARS2):c.2620G>A (p.Gly874Arg)	rs151241066	0.00004
NM_018060.4(IARS2):c.2282A>G (p.His761Arg)	rs1571863769
NM_018060.4(IARS2):c.2450G>A (p.Arg817His)	rs146618526
NM_018060.4(IARS2):c.2725C>T (p.Pro909Ser)	rs1571865562
NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu)	rs587783070
NM_018060.4(IARS2):c.680T>C (p.Phe227Ser)	rs1571845061

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