ClinVar Miner

List of variants reported as benign for osteogenesis imperfecta type 5

Included ClinVar conditions (1):

Osteogenesis imperfecta type 5

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala)	rs57285449	0.43349
NM_001025295.3(IFITM5):c.278C>T (p.Thr93Met)	rs141240817	0.00334
NM_001025295.3(IFITM5):c.120G>T (p.Ser40=)	rs79625057

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