ClinVar Miner

List of variants in gene FKBP10 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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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.344G>A (p.Arg115Gln) rs387906960 0.00001
NM_021939.3(FKBP10):c.1207C>T (p.Arg403Ter) rs372896892
NM_021939.4(FKBP10):c.1016_1023dup (p.Thr342fs)
NM_021939.4(FKBP10):c.122_156del (p.Leu41fs)
NM_021939.4(FKBP10):c.124G>T (p.Glu42Ter) rs2144041488
NM_021939.4(FKBP10):c.1271_1272delinsA (p.Ala424fs) rs397509383
NM_021939.4(FKBP10):c.1276dup (p.Gln426fs) rs1567856056
NM_021939.4(FKBP10):c.321_353del (p.Met107_Leu117del)
NM_021939.4(FKBP10):c.391+1G>A rs141847881
NM_021939.4(FKBP10):c.743dup (p.Gln249fs) rs1555616552
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_021939.4(FKBP10):c.877_879del (p.Tyr293del) rs869320752
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter) rs1567855132
NM_021939.4(FKBP10):c.948dup (p.Ile317fs) rs387907325
NM_021939.4(FKBP10):c.976del (p.Met326fs) rs869025223

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