ClinVar Miner

List of variants reported as pathogenic for Bruck syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
FKBP10, 8-BP DUP, NT1016
NM_021939.3(FKBP10):c.1271_1272delinsA (p.Ala424fs) rs397509383
NM_021939.3(FKBP10):c.1276dup (p.Gln426fs) rs1567856056
NM_021939.3(FKBP10):c.337G>A (p.Glu113Lys) rs397514674
NM_021939.3(FKBP10):c.344G>A (p.Arg115Gln) rs387906960
NM_021939.3(FKBP10):c.743dup (p.Gln249fs) rs1555616552
NM_021939.3(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_021939.3(FKBP10):c.877_879del (p.Tyr293del) rs869320752
NM_182943.3(PLOD2):c.1559dup (p.Val523fs) rs749709000
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His) rs121434461
NM_182943.3(PLOD2):c.1865G>T (p.Gly622Val) rs121434460
NM_182943.3(PLOD2):c.1886C>T (p.Thr629Ile) rs121434459

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