ClinVar Miner

List of variants studied for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005262.3(GFER):c.536G>A (p.Arg179His) rs199541169 0.00014
NM_005262.3(GFER):c.601G>A (p.Asp201Asn) rs142042300 0.00005
NM_005262.3(GFER):c.112G>A (p.Gly38Ser) rs1165547554 0.00001
NM_005262.3(GFER):c.587G>A (p.Arg196His)

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