ClinVar Miner

List of variants in gene FKBP14 reported as pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_017946.3(FKBP14):c.143T>A (p.Met48Lys)
NM_017946.3(FKBP14):c.156T>A (p.Tyr52Ter) rs1562840744
NM_017946.3(FKBP14):c.197+5_197+8del rs747353360
NM_017946.3(FKBP14):c.34_35delCT
NM_017946.3(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017946.3(FKBP14):c.42_60del (p.Val14_Thr15insTer) rs770271683
NM_017946.3(FKBP14):c.573_575del rs1430849353

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