ClinVar Miner

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

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_017946.4(FKBP14):c.165C>T (p.Tyr55=) rs17150692 0.01889
NM_017946.4(FKBP14):c.34C>G (p.Leu12Val) rs112905680 0.00310
NM_017946.4(FKBP14):c.349+16T>G rs112323392 0.00272
NM_017946.4(FKBP14):c.495G>A (p.Lys165=) rs142474407 0.00211
NM_017946.4(FKBP14):c.330C>T (p.Gly110=) rs148034796 0.00173
NM_017946.4(FKBP14):c.375G>C (p.Leu125=) rs143268242 0.00148
NM_017946.4(FKBP14):c.123G>A (p.Lys41=) rs149485427 0.00046
NM_017946.4(FKBP14):c.349+15G>A rs201366617 0.00019
NM_017946.4(FKBP14):c.246G>A (p.Leu82=) rs188844900 0.00008
NM_017946.4(FKBP14):c.48_50del (p.Leu17del) rs564626031 0.00002

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