ClinVar Miner

List of variants in gene HUWE1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 461
Download table as spreadsheet
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.963+77G>T rs181183946 0.03112
NM_031407.7(HUWE1):c.11251+57C>G rs189563757 0.02557
NM_031407.7(HUWE1):c.2877-232C>T rs140414461 0.02405
NM_031407.7(HUWE1):c.6525-310C>T rs113295951 0.01376
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_031407.7(HUWE1):c.2050-185G>A rs138690081 0.01182
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01179
NM_031407.7(HUWE1):c.2876+218G>A rs144289730 0.01176
NM_031407.7(HUWE1):c.12138-80C>G rs2234476 0.01175
NM_031407.7(HUWE1):c.3164-78T>A rs147920163 0.01175
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_031407.7(HUWE1):c.1242+84C>T rs149350979 0.01171
NM_031407.7(HUWE1):c.4095+183A>G rs141824354 0.01024
NM_031407.7(HUWE1):c.7737-72G>A rs5933596 0.00999
NM_031407.7(HUWE1):c.6031-156C>T rs5933598 0.00994
NM_031407.7(HUWE1):c.11878+122G>T rs782404123 0.00990
NM_031407.7(HUWE1):c.11878+109A>T rs782572488 0.00987
NM_031407.7(HUWE1):c.7508-200C>T rs140191500 0.00918
NM_031407.7(HUWE1):c.5521-104A>G rs142709026 0.00828
NM_031407.7(HUWE1):c.10915+31C>T rs148627371 0.00821
NM_031407.7(HUWE1):c.12649+174A>G rs182259529 0.00802
NM_031407.7(HUWE1):c.10278C>T (p.Leu3426=) rs146554767 0.00775
NM_031407.7(HUWE1):c.11252-203G>A rs147361825 0.00756
NM_031407.7(HUWE1):c.567+231G>A rs143935836 0.00726
NM_031407.7(HUWE1):c.3380+237C>T rs56117583 0.00724
NM_031407.7(HUWE1):c.12531+264G>C rs145468091 0.00717
NM_031407.7(HUWE1):c.504+86T>C rs139010646 0.00707
NM_031407.7(HUWE1):c.4825-200A>G rs7052269 0.00696
NM_031407.7(HUWE1):c.963+18T>C rs145428690 0.00694
NM_031407.7(HUWE1):c.12649+221G>C rs186393681 0.00689
NM_031407.7(HUWE1):c.567+102A>G rs184216383 0.00681
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_031407.7(HUWE1):c.11878+61T>C rs189340842 0.00593
NM_031407.7(HUWE1):c.11878+82del rs372750589 0.00591
NM_031407.7(HUWE1):c.6030+20G>A rs144140925 0.00590
NM_031407.7(HUWE1):c.8751-46C>T rs184593170 0.00589
NM_031407.7(HUWE1):c.8495-20T>C rs181550223 0.00576
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968 0.00558
NM_031407.7(HUWE1):c.645+55T>G rs148382270 0.00557
NM_031407.7(HUWE1):c.12137+93G>A rs184142842 0.00529
NM_031407.7(HUWE1):c.13023-70C>T rs145555139 0.00514
NM_031407.7(HUWE1):c.11878+107A>T rs782169490 0.00491
NM_031407.7(HUWE1):c.4095+91T>C rs112629791 0.00442
NM_031407.7(HUWE1):c.645+175A>T rs112438519 0.00442
NM_031407.7(HUWE1):c.2261+192T>C rs111492825 0.00440
NM_031407.7(HUWE1):c.8881+59G>T rs112844529 0.00433
NM_031407.7(HUWE1):c.2876+36T>C rs199682158 0.00388
NM_031407.7(HUWE1):c.7916-102A>G rs138445320 0.00375
NM_031407.7(HUWE1):c.504+116C>A rs111837441 0.00353
NM_031407.7(HUWE1):c.6881-164A>G rs190431695 0.00345
NM_031407.7(HUWE1):c.4743-18A>T rs148439022 0.00344
NM_031407.7(HUWE1):c.46-230G>T rs28685078 0.00342
NM_031407.7(HUWE1):c.145-127G>T rs781885677 0.00311
NM_031407.7(HUWE1):c.2877-52dup rs782225303 0.00298
NM_031407.7(HUWE1):c.8207-144G>A rs183655072 0.00263
NM_031407.7(HUWE1):c.2261+10T>G rs182313670 0.00187
NM_031407.7(HUWE1):c.45+86A>G rs138230407 0.00152
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
NM_031407.7(HUWE1):c.1953C>G (p.Pro651=) rs139152809 0.00108
NM_031407.7(HUWE1):c.12137+9C>T rs186915283 0.00107
NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=) rs144449744 0.00095
NM_031407.7(HUWE1):c.11910A>G (p.Leu3970=) rs150043212 0.00092
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=) rs150358853 0.00079
NM_031407.7(HUWE1):c.11451C>T (p.Pro3817=) rs146409405 0.00057
NM_031407.7(HUWE1):c.1242+4C>T rs377286362 0.00054
NM_031407.7(HUWE1):c.8298A>G (p.Gln2766=) rs202214456 0.00053
NM_031407.7(HUWE1):c.1957+39T>G rs146396638 0.00047
NM_031407.7(HUWE1):c.8206+64C>G rs368521783 0.00045
NM_031407.7(HUWE1):c.9432C>G (p.Arg3144=) rs76351631 0.00039
NM_031407.7(HUWE1):c.2050-9G>T rs377186422 0.00031
NM_031407.7(HUWE1):c.11403G>A (p.Ala3801=) rs373456806 0.00030
NM_031407.7(HUWE1):c.11586G>A (p.Glu3862=) rs140165465 0.00029
NM_031407.7(HUWE1):c.694-21A>G rs140302991 0.00027
NM_031407.7(HUWE1):c.7737-34A>C rs6638401 0.00025
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val) rs142574684 0.00025
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=) rs149577148 0.00024
NM_031407.7(HUWE1):c.12762G>A (p.Leu4254=) rs143818136 0.00022
NM_031407.7(HUWE1):c.12330C>T (p.Val4110=) rs375367345 0.00020
NM_031407.7(HUWE1):c.10593G>A (p.Ser3531=) rs374253424 0.00015
NM_031407.7(HUWE1):c.411C>G (p.Leu137=) rs138967897 0.00015
NM_031407.7(HUWE1):c.5642A>G (p.Asn1881Ser) rs201965065 0.00015
NM_031407.7(HUWE1):c.3591A>G (p.Glu1197=) rs782740620 0.00014
NM_031407.7(HUWE1):c.9015G>A (p.Ala3005=) rs145503240 0.00013
NM_031407.7(HUWE1):c.10824C>G (p.Leu3608=) rs191407530 0.00012
NM_031407.7(HUWE1):c.5938C>T (p.Leu1980=) rs782654707 0.00010
NM_031407.7(HUWE1):c.4615-37A>G rs781988403 0.00009
NM_031407.7(HUWE1):c.9010T>C (p.Ser3004Pro) rs782367962 0.00009
NM_031407.7(HUWE1):c.9797A>G (p.Asn3266Ser) rs201752906 0.00009
NM_031407.7(HUWE1):c.9920G>C (p.Gly3307Ala) rs148122817 0.00009
NM_031407.7(HUWE1):c.12650-6C>T rs374227391 0.00008
NM_031407.7(HUWE1):c.3114C>T (p.Ile1038=) rs781848587 0.00008
NM_031407.7(HUWE1):c.6283A>C (p.Thr2095Pro) rs960157635 0.00008
NM_031407.7(HUWE1):c.9486C>T (p.Asn3162=) rs150660551 0.00008
NM_031407.7(HUWE1):c.4527C>T (p.Thr1509=) rs368416687 0.00007
NM_031407.7(HUWE1):c.9357C>T (p.Ser3119=) rs143862848 0.00007
NM_031407.7(HUWE1):c.11386T>A (p.Ser3796Thr) rs377447090 0.00006
NM_031407.7(HUWE1):c.12309C>T (p.His4103=) rs782042293 0.00006
NM_031407.7(HUWE1):c.147C>T (p.Cys49=) rs149435515 0.00006
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu) rs140366563 0.00006
NM_031407.7(HUWE1):c.6606G>A (p.Ala2202=) rs782721322 0.00006
NM_031407.7(HUWE1):c.9576A>T (p.Leu3192=) rs141901327 0.00006
NM_031407.7(HUWE1):c.10459A>G (p.Thr3487Ala) rs781796838 0.00005
NM_031407.7(HUWE1):c.10929C>T (p.Ala3643=) rs1326564724 0.00005
NM_031407.7(HUWE1):c.10997T>C (p.Leu3666Pro) rs140812928 0.00005
NM_031407.7(HUWE1):c.2614C>A (p.Arg872=) rs782695696 0.00005
NM_031407.7(HUWE1):c.2655C>T (p.Leu885=) rs1556995026 0.00005
NM_031407.7(HUWE1):c.5373T>C (p.Tyr1791=) rs782516736 0.00005
NM_031407.7(HUWE1):c.5952T>C (p.Gly1984=) rs782202317 0.00005
NM_031407.7(HUWE1):c.7938A>G (p.Thr2646=) rs1379752152 0.00005
NM_031407.7(HUWE1):c.10950C>T (p.Leu3650=) rs151180939 0.00004
NM_031407.7(HUWE1):c.11473A>G (p.Ile3825Val) rs201536543 0.00004
NM_031407.7(HUWE1):c.11481C>T (p.Ser3827=) rs782419058 0.00004
NM_031407.7(HUWE1):c.12354A>G (p.Val4118=) rs371060814 0.00004
NM_031407.7(HUWE1):c.1416G>A (p.Pro472=) rs145017919 0.00004
NM_031407.7(HUWE1):c.1470A>G (p.Glu490=) rs145143264 0.00004
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_031407.7(HUWE1):c.4983A>G (p.Gln1661=) rs376523271 0.00004
NM_031407.7(HUWE1):c.6272A>G (p.Asn2091Ser) rs781858310 0.00004
NM_031407.7(HUWE1):c.795T>C (p.His265=) rs782644703 0.00004
NM_031407.7(HUWE1):c.10038A>G (p.Val3346=) rs1169705354 0.00003
NM_031407.7(HUWE1):c.11477-4C>T rs782015963 0.00003
NM_031407.7(HUWE1):c.11632+13C>T rs781937768 0.00003
NM_031407.7(HUWE1):c.11996+9C>T rs782772316 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.4827C>T (p.Tyr1609=) rs782435043 0.00003
NM_031407.7(HUWE1):c.5094G>A (p.Gln1698=) rs782679190 0.00003
NM_031407.7(HUWE1):c.5975G>A (p.Arg1992Gln) rs199846544 0.00003
NM_031407.7(HUWE1):c.7030-12A>G rs782294027 0.00003
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val) rs781928056 0.00002
NM_031407.7(HUWE1):c.10614G>A (p.Thr3538=) rs138042974 0.00002
NM_031407.7(HUWE1):c.10898C>T (p.Thr3633Ile) rs781873282 0.00002
NM_031407.7(HUWE1):c.11211G>A (p.Thr3737=) rs375030666 0.00002
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=) rs782115290 0.00002
NM_031407.7(HUWE1):c.11985T>C (p.Asp3995=) rs781856800 0.00002
NM_031407.7(HUWE1):c.1243-8C>T rs781931508 0.00002
NM_031407.7(HUWE1):c.1411T>C (p.Cys471Arg) rs782333957 0.00002
NM_031407.7(HUWE1):c.2703C>T (p.Ala901=) rs782410329 0.00002
NM_031407.7(HUWE1):c.3291C>T (p.Ala1097=) rs947688996 0.00002
NM_031407.7(HUWE1):c.4869C>T (p.Arg1623=) rs1166240247 0.00002
NM_031407.7(HUWE1):c.6073G>A (p.Ala2025Thr) rs782688724 0.00002
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln) rs782428636 0.00002
NM_031407.7(HUWE1):c.6168A>G (p.Lys2056=) rs782157157 0.00002
NM_031407.7(HUWE1):c.6852A>G (p.Gln2284=) rs782557931 0.00002
NM_031407.7(HUWE1):c.9981A>G (p.Gln3327=) rs1372957151 0.00002
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr) rs782307186 0.00001
NM_031407.7(HUWE1):c.10470A>G (p.Thr3490=) rs1192210543 0.00001
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln) rs375143574 0.00001
NM_031407.7(HUWE1):c.11252-8T>C rs781802926 0.00001
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro) rs1012962799 0.00001
NM_031407.7(HUWE1):c.11625G>A (p.Ala3875=) rs782743763 0.00001
NM_031407.7(HUWE1):c.1483A>G (p.Met495Val) rs782641553 0.00001
NM_031407.7(HUWE1):c.1707A>G (p.Glu569=) rs1557008533 0.00001
NM_031407.7(HUWE1):c.2355A>G (p.Thr785=) rs782555680 0.00001
NM_031407.7(HUWE1):c.2628C>T (p.Cys876=) rs781888845 0.00001
NM_031407.7(HUWE1):c.2832G>C (p.Leu944=) rs782501178 0.00001
NM_031407.7(HUWE1):c.3520C>G (p.Leu1174Val) rs782356520 0.00001
NM_031407.7(HUWE1):c.4095+18C>G rs1481697113 0.00001
NM_031407.7(HUWE1):c.4520C>A (p.Thr1507Lys) rs1382783056 0.00001
NM_031407.7(HUWE1):c.46-5C>G rs781938825 0.00001
NM_031407.7(HUWE1):c.4825-7T>C rs1556972162 0.00001
NM_031407.7(HUWE1):c.4825-9T>C rs1556972169 0.00001
NM_031407.7(HUWE1):c.4890C>T (p.Tyr1630=) rs373770126 0.00001
NM_031407.7(HUWE1):c.568-8A>T rs782788734 0.00001
NM_031407.7(HUWE1):c.5884+50T>A rs782477464 0.00001
NM_031407.7(HUWE1):c.6707+6A>G rs782002122 0.00001
NM_031407.7(HUWE1):c.7096A>G (p.Thr2366Ala) rs1365982862 0.00001
NM_031407.7(HUWE1):c.754G>A (p.Asp252Asn) rs782531338 0.00001
NM_031407.7(HUWE1):c.763-26A>G rs782392977 0.00001
NM_031407.7(HUWE1):c.8058G>A (p.Leu2686=) rs1244846258 0.00001
NM_031407.7(HUWE1):c.9014C>T (p.Ala3005Val) rs782220167 0.00001
NM_031407.7(HUWE1):c.9762G>A (p.Lys3254=) rs782734485 0.00001
NM_031407.7(HUWE1):c.9802C>T (p.Pro3268Ser) rs1045935059 0.00001
NM_031407.7(HUWE1):c.9936C>T (p.Thr3312=) rs782819452 0.00001
NM_031407.7(HUWE1):c.9952G>A (p.Gly3318Ser) rs144721096 0.00001
NC_000023.10:g.53672690del rs1556502214
NM_031407.7(HUWE1):c.10026A>G (p.Gln3342=)
NM_031407.7(HUWE1):c.1002T>C (p.Ile334=)
NM_031407.7(HUWE1):c.10035+75_10035+83del rs1484371039
NM_031407.7(HUWE1):c.10036-4G>C
NM_031407.7(HUWE1):c.10044C>G (p.Pro3348=)
NM_031407.7(HUWE1):c.10075A>G (p.Thr3359Ala)
NM_031407.7(HUWE1):c.10290A>G (p.Pro3430=)
NM_031407.7(HUWE1):c.10320C>T (p.His3440=)
NM_031407.7(HUWE1):c.10329C>T (p.Ile3443=)
NM_031407.7(HUWE1):c.10476CAC[3] (p.Thr3496del)
NM_031407.7(HUWE1):c.10510C>G (p.Pro3504Ala) rs199693166
NM_031407.7(HUWE1):c.10521A>C (p.Ala3507=)
NM_031407.7(HUWE1):c.105C>T (p.Leu35=)
NM_031407.7(HUWE1):c.10605T>A (p.Thr3535=)
NM_031407.7(HUWE1):c.10637-7C>T
NM_031407.7(HUWE1):c.10679G>C (p.Ser3560Thr)
NM_031407.7(HUWE1):c.10759-13T>G
NM_031407.7(HUWE1):c.10794A>G (p.Leu3598=)
NM_031407.7(HUWE1):c.10830G>T (p.Arg3610=)
NM_031407.7(HUWE1):c.10883G>A (p.Arg3628His)
NM_031407.7(HUWE1):c.10916-14C>T
NM_031407.7(HUWE1):c.10971A>G (p.Gln3657=) rs782455645
NM_031407.7(HUWE1):c.1114+17A>C
NM_031407.7(HUWE1):c.11157C>T (p.Thr3719=)
NM_031407.7(HUWE1):c.1124T>C (p.Met375Thr)
NM_031407.7(HUWE1):c.11252-15T>C
NM_031407.7(HUWE1):c.11252-5C>T
NM_031407.7(HUWE1):c.11260G>A (p.Gly3754Ser)
NM_031407.7(HUWE1):c.1131A>G (p.Pro377=)
NM_031407.7(HUWE1):c.11380-11C>T
NM_031407.7(HUWE1):c.11380-12C>T
NM_031407.7(HUWE1):c.11382G>C (p.Ser3794=)
NM_031407.7(HUWE1):c.11476+8C>T
NM_031407.7(HUWE1):c.11497G>C (p.Gly3833Arg) rs782335134
NM_031407.7(HUWE1):c.11632+15A>G
NM_031407.7(HUWE1):c.11633-241del rs34154526
NM_031407.7(HUWE1):c.11667C>A (p.Val3889=)
NM_031407.7(HUWE1):c.11667C>G (p.Val3889=)
NM_031407.7(HUWE1):c.1167T>C (p.Phe389=) rs782645158
NM_031407.7(HUWE1):c.11781G>A (p.Thr3927=)
NM_031407.7(HUWE1):c.11796C>T (p.Asp3932=)
NM_031407.7(HUWE1):c.11811G>A (p.Arg3937=)
NM_031407.7(HUWE1):c.11878+109_11878+112del rs1360869995
NM_031407.7(HUWE1):c.11878+110GT[15] rs781962529
NM_031407.7(HUWE1):c.11878+110_11878+111insGAGT rs1556915582
NM_031407.7(HUWE1):c.11878+112_11878+113insGAGAGA rs879987418
NM_031407.7(HUWE1):c.11878+7G>C
NM_031407.7(HUWE1):c.11878+83AG[12] rs782578229
NM_031407.7(HUWE1):c.11878+83AG[15] rs782578229
NM_031407.7(HUWE1):c.11952C>G (p.Val3984=)
NM_031407.7(HUWE1):c.12342G>C (p.Val4114=)
NM_031407.7(HUWE1):c.1237T>C (p.Leu413=)
NM_031407.7(HUWE1):c.12429T>C (p.Tyr4143=)
NM_031407.7(HUWE1):c.1243-6T>C
NM_031407.7(HUWE1):c.12531+224del rs34675759
NM_031407.7(HUWE1):c.12531+43G>T
NM_031407.7(HUWE1):c.12532-4C>G
NM_031407.7(HUWE1):c.12532-7G>T
NM_031407.7(HUWE1):c.12532-9T>C
NM_031407.7(HUWE1):c.12567C>G (p.Leu4189=)
NM_031407.7(HUWE1):c.1260C>T (p.Gly420=)
NM_031407.7(HUWE1):c.12649+229T>C rs151261147
NM_031407.7(HUWE1):c.12650-13G>C
NM_031407.7(HUWE1):c.12650-15T>C
NM_031407.7(HUWE1):c.12774C>T (p.Asp4258=) rs1569392872
NM_031407.7(HUWE1):c.12825T>A (p.Ser4275=) rs1556910083
NM_031407.7(HUWE1):c.12831+14G>A
NM_031407.7(HUWE1):c.12832-11C>T
NM_031407.7(HUWE1):c.12832-24G>A rs182498023
NM_031407.7(HUWE1):c.12832-4A>G
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.12996A>C (p.Thr4332=) rs1602465094
NM_031407.7(HUWE1):c.13022+12G>A
NM_031407.7(HUWE1):c.13022+17G>A
NM_031407.7(HUWE1):c.13022+17G>C
NM_031407.7(HUWE1):c.13023-10_13023-8del
NM_031407.7(HUWE1):c.13062G>A (p.Glu4354=)
NM_031407.7(HUWE1):c.1383+2TAT[2] rs782154103
NM_031407.7(HUWE1):c.1383+7T>C
NM_031407.7(HUWE1):c.1384-15T>G
NM_031407.7(HUWE1):c.144+18C>T
NM_031407.7(HUWE1):c.1467G>A (p.Glu489=)
NM_031407.7(HUWE1):c.1489+18A>C
NM_031407.7(HUWE1):c.1592-187= rs149036325
NM_031407.7(HUWE1):c.1606C>T (p.Leu536=)
NM_031407.7(HUWE1):c.1656A>G (p.Pro552=)
NM_031407.7(HUWE1):c.1686G>A (p.Val562=)
NM_031407.7(HUWE1):c.1698A>G (p.Val566=)
NM_031407.7(HUWE1):c.171G>T (p.Leu57=) rs982748296
NM_031407.7(HUWE1):c.1722C>T (p.Ser574=)
NM_031407.7(HUWE1):c.1773C>A (p.Ile591=)
NM_031407.7(HUWE1):c.1779+13T>G
NM_031407.7(HUWE1):c.1780-18A>T
NM_031407.7(HUWE1):c.1780-5T>G
NM_031407.7(HUWE1):c.1781T>C (p.Val594Ala) rs2065846967
NM_031407.7(HUWE1):c.1821A>G (p.Val607=)
NM_031407.7(HUWE1):c.1875G>C (p.Gln625His)
NM_031407.7(HUWE1):c.1957+11A>C
NM_031407.7(HUWE1):c.2050-8C>T rs1603105426
NM_031407.7(HUWE1):c.2129C>G (p.Thr710Ser)
NM_031407.7(HUWE1):c.2163C>T (p.Ala721=)
NM_031407.7(HUWE1):c.2166A>C (p.Ala722=)
NM_031407.7(HUWE1):c.2262-11T>A
NM_031407.7(HUWE1):c.2262-8C>T rs1057523417
NM_031407.7(HUWE1):c.2320-4C>G rs2148705916
NM_031407.7(HUWE1):c.2538T>A (p.Leu846=)
NM_031407.7(HUWE1):c.2616A>G (p.Arg872=)
NM_031407.7(HUWE1):c.2636A>G (p.Asn879Ser)
NM_031407.7(HUWE1):c.2677C>T (p.Leu893=)
NM_031407.7(HUWE1):c.2742+14T>C
NM_031407.7(HUWE1):c.2742+17G>C
NM_031407.7(HUWE1):c.2742+18G>T
NM_031407.7(HUWE1):c.2743-10A>G
NM_031407.7(HUWE1):c.2743-65dup rs782483263
NM_031407.7(HUWE1):c.2772G>A (p.Gln924=)
NM_031407.7(HUWE1):c.2820A>G (p.Leu940=)
NM_031407.7(HUWE1):c.2830C>T (p.Leu944=)
NM_031407.7(HUWE1):c.2877-195dup rs1209240887
NM_031407.7(HUWE1):c.2971+19A>T rs2148634889
NM_031407.7(HUWE1):c.2971+20A>C
NM_031407.7(HUWE1):c.2972-12A>G
NM_031407.7(HUWE1):c.2972-20C>T
NM_031407.7(HUWE1):c.2979A>G (p.Glu993=)
NM_031407.7(HUWE1):c.2991A>G (p.Ala997=)
NM_031407.7(HUWE1):c.303C>G (p.Ala101=)
NM_031407.7(HUWE1):c.3192T>G (p.Ala1064=) rs1602968408
NM_031407.7(HUWE1):c.3295C>A (p.Arg1099=)
NM_031407.7(HUWE1):c.3429T>C (p.Phe1143=)
NM_031407.7(HUWE1):c.3503+19C>T
NM_031407.7(HUWE1):c.3503+6G>A
NM_031407.7(HUWE1):c.352-287A>G rs1246834896
NM_031407.7(HUWE1):c.3526A>G (p.Met1176Val)
NM_031407.7(HUWE1):c.3534T>A (p.Gly1178=)
NM_031407.7(HUWE1):c.3973-5_3973-2del rs782250049
NM_031407.7(HUWE1):c.4053C>T (p.Tyr1351=) rs1569476779
NM_031407.7(HUWE1):c.4096-6C>T
NM_031407.7(HUWE1):c.4134A>G (p.Ala1378=) rs1602928904
NM_031407.7(HUWE1):c.4183T>C (p.Ser1395Pro) rs2064095549
NM_031407.7(HUWE1):c.4251A>G (p.Glu1417=)
NM_031407.7(HUWE1):c.4290G>A (p.Pro1430=)
NM_031407.7(HUWE1):c.4359G>A (p.Glu1453=) rs1602922671
NM_031407.7(HUWE1):c.4461+19A>G
NM_031407.7(HUWE1):c.4462-10G>T rs1556975560
NM_031407.7(HUWE1):c.4518C>T (p.Asp1506=)
NM_031407.7(HUWE1):c.4533A>G (p.Ser1511=)
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu) rs1602910127
NM_031407.7(HUWE1):c.4572C>G (p.Ser1524=)
NM_031407.7(HUWE1):c.46-555_46-552del
NM_031407.7(HUWE1):c.4602G>A (p.Thr1534=)
NM_031407.7(HUWE1):c.4614+11G>A
NM_031407.7(HUWE1):c.4614+303dup rs1200519263
NM_031407.7(HUWE1):c.4615-7C>G
NM_031407.7(HUWE1):c.4635T>C (p.Ala1545=)
NM_031407.7(HUWE1):c.4800A>C (p.Ser1600=)
NM_031407.7(HUWE1):c.4821T>C (p.Thr1607=)
NM_031407.7(HUWE1):c.4824+8dup
NM_031407.7(HUWE1):c.492A>G (p.Gln164=)
NM_031407.7(HUWE1):c.5001+14C>T
NM_031407.7(HUWE1):c.5002-17T>A
NM_031407.7(HUWE1):c.5016A>G (p.Thr1672=)
NM_031407.7(HUWE1):c.5025A>G (p.Arg1675=) rs782240883
NM_031407.7(HUWE1):c.5028C>T (p.Arg1676=)
NM_031407.7(HUWE1):c.504+12del
NM_031407.7(HUWE1):c.504+5G>A
NM_031407.7(HUWE1):c.505-19_505-18del
NM_031407.7(HUWE1):c.5150A>G (p.Asn1717Ser)
NM_031407.7(HUWE1):c.5161+15T>C
NM_031407.7(HUWE1):c.5162-18T>A
NM_031407.7(HUWE1):c.5165C>A (p.Thr1722Asn)
NM_031407.7(HUWE1):c.5166C>T (p.Thr1722=)
NM_031407.7(HUWE1):c.5169T>C (p.Pro1723=)
NM_031407.7(HUWE1):c.5226C>G (p.Ile1742Met)
NM_031407.7(HUWE1):c.5238G>C (p.Leu1746=)
NM_031407.7(HUWE1):c.5313C>T (p.Asp1771=)
NM_031407.7(HUWE1):c.5520+252del rs1229735699
NM_031407.7(HUWE1):c.5521-114_5521-109del rs781840396
NM_031407.7(HUWE1):c.5641A>G (p.Asn1881Asp)
NM_031407.7(HUWE1):c.5661A>G (p.Glu1887=)
NM_031407.7(HUWE1):c.567+211del rs782256000
NM_031407.7(HUWE1):c.568-18G>C
NM_031407.7(HUWE1):c.568-18_568-9del
NM_031407.7(HUWE1):c.568-19T>C
NM_031407.7(HUWE1):c.5716+3A>G rs1556966693
NM_031407.7(HUWE1):c.572A>G (p.Tyr191Cys) rs2066941837
NM_031407.7(HUWE1):c.5838C>A (p.Ile1946=)
NM_031407.7(HUWE1):c.5885-10G>A
NM_031407.7(HUWE1):c.5885-12del
NM_031407.7(HUWE1):c.5885-50A>T rs140792428
NM_031407.7(HUWE1):c.5987G>A (p.Arg1996His)
NM_031407.7(HUWE1):c.6030+18G>A
NM_031407.7(HUWE1):c.6054T>C (p.Gly2018=)
NM_031407.7(HUWE1):c.6057C>T (p.Ala2019=)
NM_031407.7(HUWE1):c.6312+18T>C
NM_031407.7(HUWE1):c.6313-19G>A
NM_031407.7(HUWE1):c.6330T>G (p.Ala2110=)
NM_031407.7(HUWE1):c.6434G>C (p.Gly2145Ala)
NM_031407.7(HUWE1):c.645+9G>A
NM_031407.7(HUWE1):c.646-159del rs202159674
NM_031407.7(HUWE1):c.646-19T>A
NM_031407.7(HUWE1):c.646-19T>C
NM_031407.7(HUWE1):c.6493G>T (p.Ala2165Ser)
NM_031407.7(HUWE1):c.6585C>T (p.Ser2195=)
NM_031407.7(HUWE1):c.6708-17_6708-16insAAA
NM_031407.7(HUWE1):c.6708-5C>T
NM_031407.7(HUWE1):c.6722A>G (p.Asn2241Ser)
NM_031407.7(HUWE1):c.675C>T (p.His225=)
NM_031407.7(HUWE1):c.6777G>A (p.Gln2259=) rs1602678789
NM_031407.7(HUWE1):c.6793G>A (p.Gly2265Ser)
NM_031407.7(HUWE1):c.6810T>C (p.Ser2270=) rs1602678611
NM_031407.7(HUWE1):c.6881-20T>G
NM_031407.7(HUWE1):c.693+17A>T
NM_031407.7(HUWE1):c.694-8del rs200857205
NM_031407.7(HUWE1):c.7508-4G>T
NM_031407.7(HUWE1):c.7508-7C>A
NM_031407.7(HUWE1):c.7512C>T (p.Asp2504=)
NM_031407.7(HUWE1):c.7513A>G (p.Ile2505Val)
NM_031407.7(HUWE1):c.7518C>T (p.Pro2506=)
NM_031407.7(HUWE1):c.753G>A (p.Lys251=) rs1603209463
NM_031407.7(HUWE1):c.7605A>C (p.Ser2535=) rs2062225730
NM_031407.7(HUWE1):c.763-18T>C
NM_031407.7(HUWE1):c.7686T>C (p.His2562=)
NM_031407.7(HUWE1):c.7737-7C>T
NM_031407.7(HUWE1):c.7818C>G (p.Leu2606=)
NM_031407.7(HUWE1):c.7819C>T (p.Leu2607=)
NM_031407.7(HUWE1):c.7866G>A (p.Glu2622=)
NM_031407.7(HUWE1):c.7923G>A (p.Leu2641=)
NM_031407.7(HUWE1):c.8006-11C>G rs1556937860
NM_031407.7(HUWE1):c.8085A>G (p.Lys2695=)
NM_031407.7(HUWE1):c.8161-17A>G
NM_031407.7(HUWE1):c.8190T>C (p.Thr2730=)
NM_031407.7(HUWE1):c.8202C>G (p.Leu2734=) rs2147509778
NM_031407.7(HUWE1):c.8206+4A>G
NM_031407.7(HUWE1):c.8206+5C>G
NM_031407.7(HUWE1):c.8206+6T>C
NM_031407.7(HUWE1):c.8207-7G>A rs1602611673
NM_031407.7(HUWE1):c.8258C>G (p.Ala2753Gly)
NM_031407.7(HUWE1):c.8303C>T (p.Ser2768Leu)
NM_031407.7(HUWE1):c.8313A>T (p.Gln2771His) rs782530883
NM_031407.7(HUWE1):c.8392A>C (p.Thr2798Pro) rs781986018
NM_031407.7(HUWE1):c.8418A>T (p.Pro2806=)
NM_031407.7(HUWE1):c.8429G>T (p.Gly2810Val)
NM_031407.7(HUWE1):c.843G>A (p.Leu281=)
NM_031407.7(HUWE1):c.8493A>G (p.Ile2831Met) rs2147396387
NM_031407.7(HUWE1):c.8495-16T>C
NM_031407.7(HUWE1):c.8496C>G (p.Thr2832=)
NM_031407.7(HUWE1):c.8599T>C (p.Leu2867=)
NM_031407.7(HUWE1):c.8693C>T (p.Ala2898Val)
NM_031407.7(HUWE1):c.8727A>G (p.Glu2909=)
NM_031407.7(HUWE1):c.8766C>T (p.Ser2922=)
NM_031407.7(HUWE1):c.8781C>T (p.Ser2927=)
NM_031407.7(HUWE1):c.8841G>A (p.Pro2947=)
NM_031407.7(HUWE1):c.8865A>G (p.Glu2955=)
NM_031407.7(HUWE1):c.8881+10G>A
NM_031407.7(HUWE1):c.8882-116A>T rs149262599
NM_031407.7(HUWE1):c.8926C>T (p.Leu2976=) rs1602589671
NM_031407.7(HUWE1):c.8952T>C (p.Val2984=)
NM_031407.7(HUWE1):c.8953C>T (p.Leu2985=)
NM_031407.7(HUWE1):c.8993C>G (p.Ala2998Gly)
NM_031407.7(HUWE1):c.9073C>T (p.Leu3025=)
NM_031407.7(HUWE1):c.9096+17G>T
NM_031407.7(HUWE1):c.9097-13T>G
NM_031407.7(HUWE1):c.9099A>G (p.Val3033=)
NM_031407.7(HUWE1):c.9165T>C (p.Pro3055=) rs1602587774
NM_031407.7(HUWE1):c.9174T>C (p.Pro3058=)
NM_031407.7(HUWE1):c.9279T>C (p.Ala3093=)
NM_031407.7(HUWE1):c.9309G>T (p.Arg3103=)
NM_031407.7(HUWE1):c.936C>T (p.Val312=)
NM_031407.7(HUWE1):c.9468_9470del (p.Gly3157del) rs782375893
NM_031407.7(HUWE1):c.9488+8T>C
NM_031407.7(HUWE1):c.9489-15A>G
NM_031407.7(HUWE1):c.9603T>C (p.Asn3201=)
NM_031407.7(HUWE1):c.963+15G>T
NM_031407.7(HUWE1):c.963+78G>C rs188749685
NM_031407.7(HUWE1):c.964-146=
NM_031407.7(HUWE1):c.9743G>T (p.Ser3248Ile)
NM_031407.7(HUWE1):c.9800G>A (p.Arg3267His)
NM_031407.7(HUWE1):c.9810C>A (p.Asp3270Glu)
NM_031407.7(HUWE1):c.9833A>G (p.Lys3278Arg)
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
NM_031407.7(HUWE1):c.9947C>G (p.Ala3316Gly)
NM_031407.7(HUWE1):c.9990T>C (p.Pro3330=)
Single allele rs1556502223

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.