ClinVar Miner

List of variants in gene FKBP14 reported as likely benign for Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

Included ClinVar conditions (1):
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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) rs762279651 0.00039
NM_017946.4(FKBP14):c.350-8C>T rs368867118 0.00028
NM_017946.4(FKBP14):c.525G>T (p.Val175=) rs747381671 0.00014
NM_017946.4(FKBP14):c.197+16C>T rs375347830 0.00009
NM_017946.4(FKBP14):c.350-5G>A rs763069544 0.00007
NM_017946.4(FKBP14):c.350-6C>T rs375827354 0.00005
NM_017946.4(FKBP14):c.39C>T (p.Phe13=) rs371838963 0.00002
NM_017946.4(FKBP14):c.174G>A (p.Lys58=) rs1242692107 0.00001
NM_017946.4(FKBP14):c.198-16T>A rs1345590310 0.00001
NM_017946.4(FKBP14):c.333T>C (p.Tyr111=) rs564024029 0.00001
NM_017946.4(FKBP14):c.349+10T>C rs369590377 0.00001
NM_017946.4(FKBP14):c.468T>C (p.Ser156=) rs1273014447 0.00001
NM_017946.4(FKBP14):c.486A>T (p.Ala162=) rs370487182 0.00001
NM_017946.4(FKBP14):c.66C>A (p.Ile22=) rs151294110 0.00001
NM_017946.4(FKBP14):c.105A>G (p.Pro35=) rs1790174432
NM_017946.4(FKBP14):c.114C>T (p.Cys38=)
NM_017946.4(FKBP14):c.139T>C (p.Leu47=) rs1562840763
NM_017946.4(FKBP14):c.186A>G (p.Leu62=)
NM_017946.4(FKBP14):c.197+6dup
NM_017946.4(FKBP14):c.198-19T>G rs1562839339
NM_017946.4(FKBP14):c.198-4A>G rs2127949590
NM_017946.4(FKBP14):c.198-8T>C
NM_017946.4(FKBP14):c.204A>G (p.Lys68=)
NM_017946.4(FKBP14):c.222C>T (p.Pro74=) rs2127949564
NM_017946.4(FKBP14):c.24G>T (p.Ala8=)
NM_017946.4(FKBP14):c.306G>A (p.Lys102=)
NM_017946.4(FKBP14):c.325C>T (p.Leu109=) rs2127949515
NM_017946.4(FKBP14):c.349+10T>G rs369590377
NM_017946.4(FKBP14):c.349+18T>C
NM_017946.4(FKBP14):c.350-13T>C
NM_017946.4(FKBP14):c.350-17T>C
NM_017946.4(FKBP14):c.350-18C>T
NM_017946.4(FKBP14):c.350-7A>G
NM_017946.4(FKBP14):c.351T>C (p.Gly117=)
NM_017946.4(FKBP14):c.36G>C (p.Leu12=)
NM_017946.4(FKBP14):c.393C>A (p.Leu131=)
NM_017946.4(FKBP14):c.426A>G (p.Glu142=)
NM_017946.4(FKBP14):c.429A>G (p.Ser143=)
NM_017946.4(FKBP14):c.432C>T (p.Phe144=)
NM_017946.4(FKBP14):c.477+15_477+17del rs766444580
NM_017946.4(FKBP14):c.477+20A>C
NM_017946.4(FKBP14):c.477+20A>T
NM_017946.4(FKBP14):c.477+7T>A rs2127948243
NM_017946.4(FKBP14):c.478-14C>G rs1218557130
NM_017946.4(FKBP14):c.478-18G>T
NM_017946.4(FKBP14):c.478-19G>A rs1278077747
NM_017946.4(FKBP14):c.478-20T>C
NM_017946.4(FKBP14):c.486A>C (p.Ala162=) rs370487182
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) rs542254849
NM_017946.4(FKBP14):c.519G>A (p.Ala173=)
NM_017946.4(FKBP14):c.54T>C (p.Ile18=)
NM_017946.4(FKBP14):c.555G>A (p.Glu185=)
NM_017946.4(FKBP14):c.558T>C (p.Asp186=) rs1789837091
NM_017946.4(FKBP14):c.561T>A (p.Ile187=) rs2127946638
NM_017946.4(FKBP14):c.576T>C (p.Asp192=)
NM_017946.4(FKBP14):c.57G>A (p.Gly19=) rs2127950905
NM_017946.4(FKBP14):c.591G>T (p.Gly197=)
NM_017946.4(FKBP14):c.615A>G (p.Thr205=)
NM_017946.4(FKBP14):c.624C>T (p.His208=) rs757161961
NM_017946.4(FKBP14):c.75A>G (p.Pro25=)
NM_017946.4(FKBP14):c.93T>G (p.Val31=)
NM_017946.4(FKBP14):c.99G>A (p.Gln33=)

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