ClinVar Miner

List of variants in gene HUWE1 studied for developmental disorder of mental health

Included ClinVar conditions (728):
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Gene type:
ClinVar version:
Total variants: 157
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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 0.34800
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01179
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_031407.7(HUWE1):c.963+18T>C rs145428690 0.00694
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_031407.7(HUWE1):c.6030+20G>A rs144140925 0.00590
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu) rs140366563 0.00006
NM_031407.7(HUWE1):c.2905G>A (p.Ala969Thr) rs138433243 0.00006
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.4229C>T (p.Ala1410Val) rs200500110 0.00003
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_031407.7(HUWE1):c.8809G>A (p.Gly2937Arg) rs1370251359 0.00002
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln) rs375143574 0.00001
NM_031407.7(HUWE1):c.10988C>T (p.Pro3663Leu) rs1556921594 0.00001
NM_031407.7(HUWE1):c.1125G>T (p.Met375Ile) rs1043071474 0.00001
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552 0.00001
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala) rs781821524 0.00001
NM_031407.7(HUWE1):c.2615G>A (p.Arg872Gln) rs782162014 0.00001
NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln) rs782315292 0.00001
NM_031407.7(HUWE1):c.5441A>G (p.Asn1814Ser) rs1556970140 0.00001
NM_031407.7(HUWE1):c.5662G>A (p.Val1888Met) rs782222601 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.811A>G (p.Arg271Gly) rs797044641 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.10111G>A (p.Ala3371Thr)
NM_031407.7(HUWE1):c.10237G>A (p.Val3413Met)
NM_031407.7(HUWE1):c.10580T>C (p.Val3527Ala) rs2061606792
NM_031407.7(HUWE1):c.10610C>A (p.Pro3537His) rs1309601872
NM_031407.7(HUWE1):c.10654G>T (p.Gly3552Cys)
NM_031407.7(HUWE1):c.10721C>G (p.Ser3574Cys)
NM_031407.7(HUWE1):c.10973G>A (p.Cys3658Tyr)
NM_031407.7(HUWE1):c.11221A>G (p.Asn3741Asp)
NM_031407.7(HUWE1):c.11410C>G (p.Arg3804Gly)
NM_031407.7(HUWE1):c.11501A>G (p.Glu3834Gly)
NM_031407.7(HUWE1):c.11501A>T (p.Glu3834Val)
NM_031407.7(HUWE1):c.11591T>C (p.Leu3864Pro)
NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter) rs1085307073
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.120G>C (p.Gln40His)
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.12225C>G (p.Asn4075Lys) rs1556913258
NM_031407.7(HUWE1):c.12227C>G (p.Pro4076Arg)
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)
NM_031407.7(HUWE1):c.12404A>C (p.His4135Pro) rs2146878120
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.12602A>C (p.Glu4201Ala) rs2146826433
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
NM_031407.7(HUWE1):c.12639G>A (p.Met4213Ile) rs2060994971
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val) rs398124423
NM_031407.7(HUWE1):c.12719C>T (p.Ser4240Phe)
NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp) rs1556910184
NM_031407.7(HUWE1):c.12778G>A (p.Asp4260Asn)
NM_031407.7(HUWE1):c.12865G>A (p.Asp4289Asn)
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
NM_031407.7(HUWE1):c.1779+5G>A rs2148854427
NM_031407.7(HUWE1):c.1781T>C (p.Val594Ala) rs2065846967
NM_031407.7(HUWE1):c.1826G>T (p.Ser609Ile)
NM_031407.7(HUWE1):c.1940G>A (p.Arg647Lys)
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)
NM_031407.7(HUWE1):c.2210C>T (p.Ala737Val) rs2148818275
NM_031407.7(HUWE1):c.2281C>T (p.Arg761Cys)
NM_031407.7(HUWE1):c.2320-19A>G
NM_031407.7(HUWE1):c.2521C>T (p.Leu841Phe)
NM_031407.7(HUWE1):c.2656T>A (p.Ser886Thr)
NM_031407.7(HUWE1):c.2803A>G (p.Ser935Gly)
NM_031407.7(HUWE1):c.286G>A (p.Val96Met)
NM_031407.7(HUWE1):c.2960del (p.Gly987fs)
NM_031407.7(HUWE1):c.3080C>T (p.Pro1027Leu)
NM_031407.7(HUWE1):c.3205CTT[1] (p.Leu1070del)
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)
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)
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn) rs2067907694
NM_031407.7(HUWE1):c.4461+96T>G rs1020095850
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.484C>G (p.Arg162Gly)
NM_031407.7(HUWE1):c.485G>A (p.Arg162Gln)
NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del) rs2067904283
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys) rs201226547
NM_031407.7(HUWE1):c.504+5G>A
NM_031407.7(HUWE1):c.5101G>A (p.Glu1701Lys) rs2148314338
NM_031407.7(HUWE1):c.5122A>C (p.Lys1708Gln)
NM_031407.7(HUWE1):c.5167C>A (p.Pro1723Thr)
NM_031407.7(HUWE1):c.5228G>A (p.Gly1743Glu)
NM_031407.7(HUWE1):c.5339G>A (p.Arg1780His)
NM_031407.7(HUWE1):c.5494T>G (p.Cys1832Gly)
NM_031407.7(HUWE1):c.567+1G>C rs1557024919
NM_031407.7(HUWE1):c.5884+3A>G rs2148030893
NM_031407.7(HUWE1):c.5885-1G>C
NM_031407.7(HUWE1):c.5915T>G (p.Met1972Arg)
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) rs1602749982
NM_031407.7(HUWE1):c.6062C>T (p.Thr2021Ile)
NM_031407.7(HUWE1):c.6071C>G (p.Ser2024Cys)
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_031407.7(HUWE1):c.6200C>T (p.Pro2067Leu) rs2062957071
NM_031407.7(HUWE1):c.6211A>G (p.Ile2071Val)
NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met) rs1556955128
NM_031407.7(HUWE1):c.6311A>G (p.Glu2104Gly)
NM_031407.7(HUWE1):c.6317_6318delinsTG (p.Cys2106Leu)
NM_031407.7(HUWE1):c.6447G>T (p.Gln2149His)
NM_031407.7(HUWE1):c.646-1G>A rs2149065229
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile) rs2066881864
NM_031407.7(HUWE1):c.6751G>A (p.Glu2251Lys) rs2062464352
NM_031407.7(HUWE1):c.6866A>T (p.Asn2289Ile)
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)
NM_031407.7(HUWE1):c.7633C>T (p.Arg2545Cys) rs2062224866
NM_031407.7(HUWE1):c.7945A>G (p.Thr2649Ala) rs2062162493
NM_031407.7(HUWE1):c.8152A>C (p.Ser2718Arg)
NM_031407.7(HUWE1):c.8159A>G (p.Gln2720Arg)
NM_031407.7(HUWE1):c.8208T>G (p.Asp2736Glu)
NM_031407.7(HUWE1):c.8313A>T (p.Gln2771His) rs782530883
NM_031407.7(HUWE1):c.8321T>C (p.Leu2774Pro)
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)
NM_031407.7(HUWE1):c.8493A>G (p.Ile2831Met) rs2147396387
NM_031407.7(HUWE1):c.8529T>A (p.Asp2843Glu)
NM_031407.7(HUWE1):c.8653G>A (p.Ala2885Thr)
NM_031407.7(HUWE1):c.8686G>C (p.Ala2896Pro)
NM_031407.7(HUWE1):c.8840C>T (p.Pro2947Leu) rs2147326587
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)
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.9514C>G (p.Leu3172Val) rs2147253217
NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser) rs782393002
NM_031407.7(HUWE1):c.9608G>A (p.Ser3203Asn)
NM_031407.7(HUWE1):c.9883G>A (p.Gly3295Ser) rs2147247961

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