ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 165
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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.568_570del (p.Lys190del) rs762279651 0.00039
NM_017946.4(FKBP14):c.350-8C>T rs368867118 0.00028
NM_017946.4(FKBP14):c.349+15G>A rs201366617 0.00019
NM_017946.4(FKBP14):c.525G>T (p.Val175=) rs747381671 0.00014
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.197+16C>T rs375347830 0.00009
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met) rs202182643 0.00009
NM_017946.4(FKBP14):c.246G>A (p.Leu82=) rs188844900 0.00008
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.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.39C>T (p.Phe13=) rs371838963 0.00002
NM_017946.4(FKBP14):c.404G>A (p.Arg135Gln) rs747727076 0.00002
NM_017946.4(FKBP14):c.48_50del (p.Leu17del) rs564626031 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.174G>A (p.Lys58=) rs1242692107 0.00001
NM_017946.4(FKBP14):c.198-16T>A rs1345590310 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.333T>C (p.Tyr111=) rs564024029 0.00001
NM_017946.4(FKBP14):c.340G>A (p.Glu114Lys) rs1192635116 0.00001
NM_017946.4(FKBP14):c.349+10T>C rs369590377 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.468T>C (p.Ser156=) rs1273014447 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.486A>T (p.Ala162=) rs370487182 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
NM_017946.4(FKBP14):c.66C>A (p.Ile22=) rs151294110 0.00001
NC_000007.13:g.(?_30049199)_(30067417_?)dup
NC_000007.13:g.(?_30054351)_(31018859_?)dup
NC_000007.14:g.(?_30010573)_(30014903_?)del
NM_017946.4(FKBP14):c.105A>G (p.Pro35=) rs1790174432
NM_017946.4(FKBP14):c.114C>T (p.Cys38=)
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.139T>C (p.Leu47=) rs1562840763
NM_017946.4(FKBP14):c.143T>A (p.Met48Lys) rs1583738267
NM_017946.4(FKBP14):c.156T>A (p.Tyr52Ter) rs1562840744
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.186A>G (p.Leu62=)
NM_017946.4(FKBP14):c.194C>T (p.Ser65Phe)
NM_017946.4(FKBP14):c.197+1G>A rs758622304
NM_017946.4(FKBP14):c.197+5_197+8del rs747353360
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.203A>G (p.Lys68Arg)
NM_017946.4(FKBP14):c.204A>G (p.Lys68=)
NM_017946.4(FKBP14):c.206A>G (p.His69Arg) rs564539430
NM_017946.4(FKBP14):c.206dup (p.His69fs) rs2127949580
NM_017946.4(FKBP14):c.207_208del (p.His69fs) rs1583734485
NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp)
NM_017946.4(FKBP14):c.21C>A (p.Asn7Lys)
NM_017946.4(FKBP14):c.222C>T (p.Pro74=) rs2127949564
NM_017946.4(FKBP14):c.247G>A (p.Glu83Lys) rs1264425307
NM_017946.4(FKBP14):c.24G>T (p.Ala8=)
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.264G>A (p.Trp88Ter)
NM_017946.4(FKBP14):c.295G>C (p.Glu99Gln)
NM_017946.4(FKBP14):c.305A>G (p.Lys102Arg) rs1376933291
NM_017946.4(FKBP14):c.306G>A (p.Lys102=)
NM_017946.4(FKBP14):c.307C>T (p.Leu103Phe)
NM_017946.4(FKBP14):c.325C>T (p.Leu109=) rs2127949515
NM_017946.4(FKBP14):c.32C>T (p.Thr11Ile) rs1235130674
NM_017946.4(FKBP14):c.349+10T>G rs369590377
NM_017946.4(FKBP14):c.349+18T>C
NM_017946.4(FKBP14):c.349+6A>C rs1790066082
NM_017946.4(FKBP14):c.34_35del (p.Leu12fs) rs1583738732
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.350-8C>G rs368867118
NM_017946.4(FKBP14):c.351T>C (p.Gly117=)
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017946.4(FKBP14):c.36G>C (p.Leu12=)
NM_017946.4(FKBP14):c.385A>G (p.Ile129Val) rs771396716
NM_017946.4(FKBP14):c.393C>A (p.Leu131=)
NM_017946.4(FKBP14):c.40G>C (p.Val14Leu)
NM_017946.4(FKBP14):c.426A>G (p.Glu142=)
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)
NM_017946.4(FKBP14):c.429A>G (p.Ser143=)
NM_017946.4(FKBP14):c.42_60del (p.Val14_Thr15insTer) rs770271683
NM_017946.4(FKBP14):c.432C>T (p.Phe144=)
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.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.478-1G>A rs2127946672
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.50T>C (p.Leu17Ser) rs1554371125
NM_017946.4(FKBP14):c.511C>T (p.His171Tyr) rs1583725676
NM_017946.4(FKBP14):c.519G>A (p.Ala173=)
NM_017946.4(FKBP14):c.527A>G (p.Asn176Ser) rs2127946652
NM_017946.4(FKBP14):c.52A>G (p.Ile18Val)
NM_017946.4(FKBP14):c.52_55del (p.Ile18fs)
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.54T>C (p.Ile18=)
NM_017946.4(FKBP14):c.555G>A (p.Glu185=)
NM_017946.4(FKBP14):c.556G>T (p.Asp186Tyr) rs766873942
NM_017946.4(FKBP14):c.558T>C (p.Asp186=) rs1789837091
NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser) rs773564727
NM_017946.4(FKBP14):c.561T>A (p.Ile187=) rs2127946638
NM_017946.4(FKBP14):c.568A>C (p.Lys190Gln) rs141843195
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del) rs1430849353
NM_017946.4(FKBP14):c.573A>T (p.Glu191Asp) rs1283044971
NM_017946.4(FKBP14):c.576T>C (p.Asp192=)
NM_017946.4(FKBP14):c.57G>A (p.Gly19=) rs2127950905
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.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.632T>C (p.Leu211Ser)
NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr) rs1583725395
NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser) rs2127950957
NM_017946.4(FKBP14):c.75A>G (p.Pro25=)
NM_017946.4(FKBP14):c.87T>G (p.Ile29Met)
NM_017946.4(FKBP14):c.93T>G (p.Val31=)
NM_017946.4(FKBP14):c.95_96del (p.Leu32fs) rs2127950876
NM_017946.4(FKBP14):c.99G>A (p.Gln33=)
NM_017946.4(FKBP14):c.99G>T (p.Gln33His)

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