ClinVar Miner

List of variants in gene FKBP14 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_017946.4(FKBP14):c.34C>G (p.Leu12Val) rs112905680 0.00310
NM_017946.4(FKBP14):c.330C>T (p.Gly110=) rs148034796 0.00162
NM_017946.4(FKBP14):c.375G>C (p.Leu125=) rs143268242 0.00150
NM_017946.4(FKBP14):c.350-8C>T rs368867118 0.00027
NM_017946.4(FKBP14):c.144G>A (p.Met48Ile) rs141850025 0.00009
NM_017946.4(FKBP14):c.478G>A (p.Val160Ile) rs768353747 0.00003
NM_017946.4(FKBP14):c.518C>T (p.Ala173Val) rs757164371 0.00003
NM_017946.4(FKBP14):c.314T>C (p.Ile105Thr) rs765841495 0.00002
NM_017946.4(FKBP14):c.48_50del (p.Leu17del) rs564626031 0.00002
NM_017946.4(FKBP14):c.173A>C (p.Lys58Thr) rs769609634 0.00001
NM_017946.4(FKBP14):c.186A>G (p.Leu62=) rs771213302
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) rs542254849

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