ClinVar Miner

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

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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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_021939.4(FKBP10):c.1024dup (p.Thr342fs) rs1597908085
NM_021939.4(FKBP10):c.1034del (p.Pro345fs)
NM_021939.4(FKBP10):c.106C>A (p.Pro36Thr) rs1597902342
NM_021939.4(FKBP10):c.134T>A (p.Val45Asp) rs1374482728
NM_021939.4(FKBP10):c.179A>C (p.Gln60Pro) rs2144041758
NM_021939.4(FKBP10):c.370G>T (p.Gly124Cys) rs1597905563
NM_021939.4(FKBP10):c.391+4A>T rs2144052934
NM_021939.4(FKBP10):c.523_552dup (p.Asp175_Thr184dup) rs1597906442
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter) rs1567855132
NM_021939.4(FKBP10):c.918-2A>G rs1597907877
NM_021939.4(FKBP10):c.918-6T>G rs2047862318

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