ClinVar Miner

List of variants in gene IFITM5 reported as uncertain significance for Osteogenesis imperfecta type 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter)	rs531009160	0.00002
NM_001025295.3(IFITM5):c.143A>G (p.Asn48Ser)	rs2134037146

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