ClinVar Miner

List of variants reported as pathogenic for Bruck syndrome 1; Osteogenesis imperfecta type 11

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)	rs397514674	0.00001
NM_021939.4(FKBP10):c.831del (p.Gly278fs)	rs137853883
NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	rs137853883

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