List of variants studied for Bruck syndrome 1; Osteogenesis imperfecta type 11

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		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_021939.4(FKBP10):c.1256+14G>C	rs202121419	0.00906
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys)	rs76022961	0.00741
NM_021939.4(FKBP10):c.1667G>A (p.Arg556His)	rs138281924	0.00120
NM_021939.4(FKBP10):c.1003A>G (p.Met335Val)	rs369599375	0.00008
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)	rs397514674	0.00001
NM_021939.4(FKBP10):c.1256+17dup	rs55720039
NM_021939.4(FKBP10):c.1400-1G>T
NM_021939.4(FKBP10):c.1499_1502dup (p.Ala503fs)
NM_021939.4(FKBP10):c.1564-2A>T
NM_021939.4(FKBP10):c.1621C>T (p.Gln541Ter)	rs782682320
NM_021939.4(FKBP10):c.726T>G (p.Tyr242Ter)
NM_021939.4(FKBP10):c.727+2del
NM_021939.4(FKBP10):c.743del (p.Pro248fs)
NM_021939.4(FKBP10):c.829_841del (p.Pro277fs)
NM_021939.4(FKBP10):c.831del (p.Gly278fs)	rs137853883
NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	rs137853883
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter)	rs1567855132

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