ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_017946.4(FKBP14):c.144G>A (p.Met48Ile) rs141850025 0.00011
NM_017946.4(FKBP14):c.179G>A (p.Gly60Asp) rs781073404 0.00009
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met) rs202182643 0.00009
NM_017946.4(FKBP14):c.518C>T (p.Ala173Val) rs757164371 0.00003
NM_017946.4(FKBP14):c.92T>C (p.Val31Ala) rs372805238 0.00003
NM_017946.4(FKBP14):c.16T>G (p.Trp6Gly) rs935382945 0.00002
NM_017946.4(FKBP14):c.18G>C (p.Trp6Cys) rs1481251822 0.00002
NM_017946.4(FKBP14):c.314T>C (p.Ile105Thr) rs765841495 0.00002
NM_017946.4(FKBP14):c.404G>A (p.Arg135Gln) rs747727076 0.00002
NM_017946.4(FKBP14):c.74C>G (p.Pro25Arg) rs142423230 0.00002
NM_017946.4(FKBP14):c.79G>C (p.Val27Leu) rs148775136 0.00002
NM_017946.4(FKBP14):c.103C>A (p.Pro35Thr) rs143937777 0.00001
NM_017946.4(FKBP14):c.136G>T (p.Asp46Tyr) rs750062960 0.00001
NM_017946.4(FKBP14):c.147G>C (p.Leu49Phe) rs761481531 0.00001
NM_017946.4(FKBP14):c.173A>C (p.Lys58Thr) rs769609634 0.00001
NM_017946.4(FKBP14):c.198-3T>C rs772253719 0.00001
NM_017946.4(FKBP14):c.218A>T (p.Gln73Leu) rs780382667 0.00001
NM_017946.4(FKBP14):c.233C>T (p.Thr78Ile) rs758100842 0.00001
NM_017946.4(FKBP14):c.25G>A (p.Val9Ile) rs1198123802 0.00001
NM_017946.4(FKBP14):c.30G>C (p.Leu10Phe) rs1473185753 0.00001
NM_017946.4(FKBP14):c.340G>A (p.Glu114Lys) rs1192635116 0.00001
NM_017946.4(FKBP14):c.386T>C (p.Ile129Thr) rs201579172 0.00001
NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr) rs751708321 0.00001
NM_017946.4(FKBP14):c.477+1G>A rs763168158 0.00001
NM_017946.4(FKBP14):c.478G>A (p.Val160Ile) rs768353747 0.00001
NM_017946.4(FKBP14):c.499G>A (p.Glu167Lys) rs537455755 0.00001
NM_017946.4(FKBP14):c.512A>C (p.His171Pro) rs147665999 0.00001
NM_017946.4(FKBP14):c.543T>A (p.Asp181Glu) rs776599954 0.00001
NM_017946.4(FKBP14):c.557A>G (p.Asp186Gly) rs761086215 0.00001
NM_017946.4(FKBP14):c.595A>G (p.Ile199Val) rs780572118 0.00001
NM_017946.4(FKBP14):c.619A>C (p.Lys207Gln) rs1281054139 0.00001
NC_000007.13:g.(?_30049199)_(30067417_?)dup
NC_000007.14:g.(?_30010573)_(30014903_?)del
NM_017946.4(FKBP14):c.116A>G (p.His39Arg) rs778007431
NM_017946.4(FKBP14):c.119G>A (p.Arg40His) rs1554371032
NM_017946.4(FKBP14):c.137A>G (p.Asp46Gly) rs1159422560
NM_017946.4(FKBP14):c.164A>G (p.Tyr55Cys) rs1156382110
NM_017946.4(FKBP14):c.182C>T (p.Ser61Phe) rs1583738133
NM_017946.4(FKBP14):c.194C>T (p.Ser65Phe)
NM_017946.4(FKBP14):c.203A>G (p.Lys68Arg)
NM_017946.4(FKBP14):c.206A>G (p.His69Arg) rs564539430
NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp)
NM_017946.4(FKBP14):c.21C>A (p.Asn7Lys)
NM_017946.4(FKBP14):c.247G>A (p.Glu83Lys) rs1264425307
NM_017946.4(FKBP14):c.250G>A (p.Ala84Thr) rs935783818
NM_017946.4(FKBP14):c.257A>G (p.Lys86Arg) rs543492611
NM_017946.4(FKBP14):c.295G>C (p.Glu99Gln)
NM_017946.4(FKBP14):c.305A>G (p.Lys102Arg) rs1376933291
NM_017946.4(FKBP14):c.307C>T (p.Leu103Phe)
NM_017946.4(FKBP14):c.32C>T (p.Thr11Ile) rs1235130674
NM_017946.4(FKBP14):c.349+6A>C rs1790066082
NM_017946.4(FKBP14):c.350-8C>G rs368867118
NM_017946.4(FKBP14):c.385A>G (p.Ile129Val) rs771396716
NM_017946.4(FKBP14):c.40G>C (p.Val14Leu)
NM_017946.4(FKBP14):c.445C>G (p.Leu149Val) rs2127948264
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer) rs753775062
NM_017946.4(FKBP14):c.467_469del (p.Ser156_Lys157delinsTer) rs2127948247
NM_017946.4(FKBP14):c.471A>C (p.Lys157Asn) rs1789962057
NM_017946.4(FKBP14):c.478-1G>A rs2127946672
NM_017946.4(FKBP14):c.50T>C (p.Leu17Ser) rs1554371125
NM_017946.4(FKBP14):c.511C>T (p.His171Tyr) rs1583725676
NM_017946.4(FKBP14):c.527A>G (p.Asn176Ser) rs2127946652
NM_017946.4(FKBP14):c.52A>G (p.Ile18Val)
NM_017946.4(FKBP14):c.535CAT[1] (p.His180del)
NM_017946.4(FKBP14):c.537T>A (p.His179Gln)
NM_017946.4(FKBP14):c.53T>C (p.Ile18Thr)
NM_017946.4(FKBP14):c.556G>T (p.Asp186Tyr) rs766873942
NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser) rs773564727
NM_017946.4(FKBP14):c.568A>C (p.Lys190Gln) rs141843195
NM_017946.4(FKBP14):c.573A>T (p.Glu191Asp) rs1283044971
NM_017946.4(FKBP14):c.580G>A (p.Asp194Asn) rs1439447377
NM_017946.4(FKBP14):c.582C>G (p.Asp194Glu) rs1347395907
NM_017946.4(FKBP14):c.589G>A (p.Gly197Arg)
NM_017946.4(FKBP14):c.632T>C (p.Leu211Ser)
NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser) rs2127950957
NM_017946.4(FKBP14):c.87T>G (p.Ile29Met)
NM_017946.4(FKBP14):c.99G>T (p.Gln33His)

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