ClinVar Miner

List of variants in gene HUWE1 studied for Intellectual disability, X-linked syndromic, Turner type

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Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_031407.7(HUWE1):c.5716+37T>G rs266786 0.35582
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01099
NM_031407.7(HUWE1):c.963+18T>C rs145428690 0.00669
NM_031407.7(HUWE1):c.6030+20G>A rs144140925 0.00613
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_031407.7(HUWE1):c.5642A>G (p.Asn1881Ser) rs201965065 0.00015
NM_031407.7(HUWE1):c.72C>G (p.Asp24Glu) rs375073885 0.00009
NM_031407.7(HUWE1):c.2905G>A (p.Ala969Thr) rs138433243 0.00006
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_031407.7(HUWE1):c.5167C>A (p.Pro1723Thr) rs1478606307 0.00004
NM_031407.7(HUWE1):c.11710C>T (p.Arg3904Cys) rs782376870 0.00003
NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His) rs1556915795 0.00003
NM_031407.7(HUWE1):c.178C>T (p.Arg60Cys) rs782306178 0.00003
NM_031407.7(HUWE1):c.1869G>C (p.Gln623His) rs149955783 0.00003
NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val) rs200500110 0.00003
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_031407.7(HUWE1):c.12980G>A (p.Arg4327Gln) rs1290768701 0.00002
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) rs1602749982 0.00002
NM_031407.7(HUWE1):c.8809G>A (p.Gly2937Arg) rs1370251359 0.00002
NM_031407.7(HUWE1):c.10111G>A (p.Ala3371Thr) rs781993401 0.00001
NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr) rs782773400 0.00001
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln) rs375143574 0.00001
NM_031407.7(HUWE1):c.10973G>A (p.Cys3658Tyr) rs2522911409 0.00001
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552 0.00001
NM_031407.7(HUWE1):c.12943G>A (p.Glu4315Lys) rs782448394 0.00001
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala) rs781821524 0.00001
NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln) rs782315292 0.00001
NM_031407.7(HUWE1):c.4461+96T>G rs1020095850 0.00001
NM_031407.7(HUWE1):c.485G>A (p.Arg162Gln) rs1320549740 0.00001
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys) rs201226547 0.00001
NM_031407.7(HUWE1):c.5441A>G (p.Asn1814Ser) rs1556970140 0.00001
NM_031407.7(HUWE1):c.5885-1G>C rs782770946 0.00001
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile) rs782119109 0.00001
NM_031407.7(HUWE1):c.7013G>C (p.Ser2338Thr) rs2062442667 0.00001
NM_031407.7(HUWE1):c.8152A>C (p.Ser2718Arg) rs2523812994 0.00001
NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp) rs373845421 0.00001
NM_031407.7(HUWE1):c.-24-2A>G rs1569511527
NM_031407.7(HUWE1):c.10204C>T (p.Arg3402Trp)
NM_031407.7(HUWE1):c.10237G>A (p.Val3413Met) rs2061621222
NM_031407.7(HUWE1):c.10580T>C (p.Val3527Ala) rs2061606792
NM_031407.7(HUWE1):c.10654G>T (p.Gly3552Cys) rs1556923379
NM_031407.7(HUWE1):c.10721C>G (p.Ser3574Cys) rs2523027460
NM_031407.7(HUWE1):c.10930G>A (p.Glu3644Lys)
NM_031407.7(HUWE1):c.10988C>T (p.Pro3663Leu) rs1556921594
NM_031407.7(HUWE1):c.11221A>G (p.Asn3741Asp) rs2522874462
NM_031407.7(HUWE1):c.11410C>G (p.Arg3804Gly) rs782423036
NM_031407.7(HUWE1):c.11501A>G (p.Glu3834Gly) rs2522467893
NM_031407.7(HUWE1):c.11501A>T (p.Glu3834Val) rs2522467893
NM_031407.7(HUWE1):c.11591T>C (p.Leu3864Pro) rs2522462806
NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter) rs1085307073
NM_031407.7(HUWE1):c.11801T>C (p.Phe3934Ser)
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.12091T>C (p.Tyr4031His)
NM_031407.7(HUWE1):c.12095G>A (p.Arg4032His)
NM_031407.7(HUWE1):c.120G>C (p.Gln40His) rs2528957371
NM_031407.7(HUWE1):c.12187C>T (p.Arg4063Trp) rs2146881246
NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln) rs1569399945
NM_031407.7(HUWE1):c.12205A>T (p.Ile4069Phe) rs1556913268
NM_031407.7(HUWE1):c.12224A>T (p.Asn4075Ile)
NM_031407.7(HUWE1):c.12225C>G (p.Asn4075Lys) rs1556913258
NM_031407.7(HUWE1):c.12227C>G (p.Pro4076Arg) rs2522060204
NM_031407.7(HUWE1):c.12293A>G (p.His4098Arg) rs2146879830
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.12335G>A (p.Arg4112His) rs2522053931
NM_031407.7(HUWE1):c.12364C>T (p.Arg4122Cys)
NM_031407.7(HUWE1):c.12404A>C (p.His4135Pro) rs2146878120
NM_031407.7(HUWE1):c.12407T>C (p.Ile4136Thr)
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) rs1556912828
NM_031407.7(HUWE1):c.12559C>A (p.Arg4187Ser) rs121918527
NM_031407.7(HUWE1):c.12577G>A (p.Gly4193Arg) rs2521859081
NM_031407.7(HUWE1):c.12602A>C (p.Glu4201Ala) rs2146826433
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile) rs2521855715
NM_031407.7(HUWE1):c.12639G>A (p.Met4213Ile) rs2060994971
NM_031407.7(HUWE1):c.12650G>C (p.Gly4217Ala) rs1556910261
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val) rs398124423
NM_031407.7(HUWE1):c.12719C>T (p.Ser4240Phe) rs2521675340
NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp) rs1556910184
NM_031407.7(HUWE1):c.12865G>A (p.Asp4289Asn) rs1556909422
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg) rs1556909287
NM_031407.7(HUWE1):c.1355G>C (p.Gly452Ala) rs2066616886
NM_031407.7(HUWE1):c.1445C>T (p.Pro482Leu) rs2066586691
NM_031407.7(HUWE1):c.145-2A>G rs1569509136
NM_031407.7(HUWE1):c.1489+6T>C rs2527973251
NM_031407.7(HUWE1):c.1673-12_1673-8del
NM_031407.7(HUWE1):c.1760A>G (p.His587Arg) rs2527503170
NM_031407.7(HUWE1):c.1779+5G>A rs2148854427
NM_031407.7(HUWE1):c.1826G>T (p.Ser609Ile) rs2527486687
NM_031407.7(HUWE1):c.1880T>C (p.Phe627Ser) rs2527485391
NM_031407.7(HUWE1):c.1940G>A (p.Arg647Lys) rs2527483570
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.7(HUWE1):c.2007T>G (p.His669Gln) rs1557006873
NM_031407.7(HUWE1):c.212C>T (p.Thr71Ile) rs2528919108
NM_031407.7(HUWE1):c.2195_2203del (p.Glu732_Glu734del) rs2527363085
NM_031407.7(HUWE1):c.2210C>T (p.Ala737Val) rs2148818275
NM_031407.7(HUWE1):c.2281C>T (p.Arg761Cys) rs2527099021
NM_031407.7(HUWE1):c.2320-19A>G rs2527048870
NM_031407.7(HUWE1):c.2413A>T (p.Ile805Phe)
NM_031407.7(HUWE1):c.2429A>G (p.Asn810Ser) rs2527045183
NM_031407.7(HUWE1):c.2521C>T (p.Leu841Phe) rs2526917629
NM_031407.7(HUWE1):c.2656T>A (p.Ser886Thr) rs2526911018
NM_031407.7(HUWE1):c.2803A>G (p.Ser935Gly) rs782147527
NM_031407.7(HUWE1):c.286G>A (p.Val96Met) rs892342403
NM_031407.7(HUWE1):c.2960del (p.Gly987fs) rs2526757687
NM_031407.7(HUWE1):c.3080C>T (p.Pro1027Leu) rs2064746935
NM_031407.7(HUWE1):c.3205CTT[1] (p.Leu1070del) rs2526295478
NM_031407.7(HUWE1):c.3238C>T (p.Arg1080Cys)
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His) rs1057518704
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe) rs1557036757
NM_031407.7(HUWE1):c.353A>G (p.His118Arg) rs2528791650
NM_031407.7(HUWE1):c.3982A>G (p.Met1328Val) rs1556978515
NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val) rs863224879
NM_031407.7(HUWE1):c.401T>G (p.Val134Gly) rs2528790175
NM_031407.7(HUWE1):c.4133C>A (p.Ala1378Glu)
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn) rs2067907694
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu) rs1602910127
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met) rs1569473370
NM_031407.7(HUWE1):c.473C>T (p.Pro158Leu) rs2149250400
NM_031407.7(HUWE1):c.5101G>A (p.Glu1701Lys) rs2148314338
NM_031407.7(HUWE1):c.5122A>C (p.Lys1708Gln) rs2525563424
NM_031407.7(HUWE1):c.5228G>A (p.Gly1743Glu) rs2525532799
NM_031407.7(HUWE1):c.5339G>A (p.Arg1780His) rs1332120966
NM_031407.7(HUWE1):c.5494T>G (p.Cys1832Gly) rs1556970060
NM_031407.7(HUWE1):c.5662G>A (p.Val1888Met) rs782222601
NM_031407.7(HUWE1):c.567+1G>C rs1557024919
NM_031407.7(HUWE1):c.5884+3A>G rs2148030893
NM_031407.7(HUWE1):c.5915T>G (p.Met1972Arg) rs2524814317
NM_031407.7(HUWE1):c.6062C>T (p.Thr2021Ile) rs1556957192
NM_031407.7(HUWE1):c.6071C>G (p.Ser2024Cys) rs2063038676
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_031407.7(HUWE1):c.6211A>G (p.Ile2071Val) rs782598182
NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met) rs1556955128
NM_031407.7(HUWE1):c.6311A>G (p.Glu2104Gly) rs2494286656
NM_031407.7(HUWE1):c.6317_6318delinsTG (p.Cys2106Leu) rs2524488884
NM_031407.7(HUWE1):c.6447G>T (p.Gln2149His) rs1159443354
NM_031407.7(HUWE1):c.646-1G>A rs2149065229
NM_031407.7(HUWE1):c.6685C>T (p.Pro2229Ser) rs2524421018
NM_031407.7(HUWE1):c.6707G>A (p.Ser2236Asn) rs2524419984
NM_031407.7(HUWE1):c.6859A>G (p.Ser2287Gly)
NM_031407.7(HUWE1):c.6866A>T (p.Asn2289Ile) rs2524208170
NM_031407.7(HUWE1):c.6976G>T (p.Asp2326Tyr) rs1569448303
NM_031407.7(HUWE1):c.7507+7T>C rs2147654560
NM_031407.7(HUWE1):c.7598G>A (p.Gly2533Asp) rs2147610673
NM_031407.7(HUWE1):c.7633C>T (p.Arg2545Cys) rs2062224866
NM_031407.7(HUWE1):c.8159A>G (p.Gln2720Arg) rs2523812705
NM_031407.7(HUWE1):c.8208T>G (p.Asp2736Glu) rs2523554153
NM_031407.7(HUWE1):c.8313A>T (p.Gln2771His) rs782530883
NM_031407.7(HUWE1):c.8321T>C (p.Leu2774Pro) rs2523546668
NM_031407.7(HUWE1):c.8371G>T (p.Ala2791Ser) rs2047925685
NM_031407.7(HUWE1):c.8383G>T (p.Gly2795Cys) rs2061922447
NM_031407.7(HUWE1):c.8458A>G (p.Thr2820Ala) rs2523538695
NM_031407.7(HUWE1):c.8493A>G (p.Ile2831Met) rs2147396387
NM_031407.7(HUWE1):c.8529T>A (p.Asp2843Glu) rs2061821773
NM_031407.7(HUWE1):c.8653G>A (p.Ala2885Thr) rs2523426961
NM_031407.7(HUWE1):c.8686G>C (p.Ala2896Pro) rs2523425174
NM_031407.7(HUWE1):c.8840C>T (p.Pro2947Leu) rs2147326587
NM_031407.7(HUWE1):c.8855G>A (p.Ser2952Asn)
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_031407.7(HUWE1):c.8974C>G (p.Arg2992Gly) rs1401359685
NM_031407.7(HUWE1):c.9118G>A (p.Glu3040Lys) rs2523331736
NM_031407.7(HUWE1):c.9166A>C (p.Met3056Leu) rs2147292812
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) rs2061745581
NM_031407.7(HUWE1):c.9425A>T (p.Tyr3142Phe) rs2523308897
NM_031407.7(HUWE1):c.9514C>G (p.Leu3172Val) rs2147253217
NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser) rs782393002
NM_031407.7(HUWE1):c.9608G>A (p.Ser3203Asn) rs2523229499
NM_031407.7(HUWE1):c.9883G>A (p.Gly3295Ser) rs2147247961
NM_031407.7(HUWE1):c.9922G>T (p.Gly3308Trp) rs1240080253
NM_031407.7:c.[10052T>C];[10049_10050delinsGG]

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