ClinVar Miner

List of variants studied for Osteogenesis imperfecta type 5 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001025295.3(IFITM5):c.119C>G (p.Ser40Trp) rs786201032
NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu) rs786201032

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