ClinVar Miner

List of variants in gene HUWE1 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 460
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HGVS dbSNP gnomAD frequency
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.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.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.45+86A>G rs138230407 0.00152
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
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.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.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.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.9015G>A (p.Ala3005=) rs145503240 0.00013
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.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.4527C>T (p.Thr1509=) rs368416687 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.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.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.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.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.5975G>A (p.Arg1992Gln) rs199846544 0.00003
NM_031407.7(HUWE1):c.7030-12A>G rs782294027 0.00003
NM_031407.7(HUWE1):c.10614G>A (p.Thr3538=) rs138042974 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.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.10929C>T (p.Ala3643=) rs1326564724 0.00001
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln) rs375143574 0.00001
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro) rs1012962799 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.3520C>G (p.Leu1174Val) rs782356520 0.00001
NM_031407.7(HUWE1):c.4095+18C>G rs1481697113 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.659C>T (p.Thr220Ile) rs782119109 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.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.10036-15T>C
NM_031407.7(HUWE1):c.10036-4G>C
NM_031407.7(HUWE1):c.10044C>G (p.Pro3348=)
NM_031407.7(HUWE1):c.10106A>G (p.Asn3369Ser)
NM_031407.7(HUWE1):c.10111G>A (p.Ala3371Thr)
NM_031407.7(HUWE1):c.10248C>T (p.Gly3416=)
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.10428T>C (p.Ser3476=)
NM_031407.7(HUWE1):c.10438G>A (p.Ala3480Thr)
NM_031407.7(HUWE1):c.10476CAC[3] (p.Thr3496del)
NM_031407.7(HUWE1):c.10504C>T (p.Pro3502Ser)
NM_031407.7(HUWE1):c.10510C>G (p.Pro3504Ala) rs199693166
NM_031407.7(HUWE1):c.10521A>C (p.Ala3507=)
NM_031407.7(HUWE1):c.10562C>T (p.Thr3521Met)
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.10770C>A (p.Ser3590=)
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.10915+8C>T
NM_031407.7(HUWE1):c.10916-14C>T
NM_031407.7(HUWE1):c.10971A>G (p.Gln3657=) rs782455645
NM_031407.7(HUWE1):c.10980C>T (p.Thr3660=)
NM_031407.7(HUWE1):c.11049-10C>T
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.11259C>T (p.Ser3753=)
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+16T>G
NM_031407.7(HUWE1):c.11476+20T>C
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.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.11835C>T (p.Ser3945=)
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.11922G>A (p.Thr3974=)
NM_031407.7(HUWE1):c.11952C>G (p.Val3984=)
NM_031407.7(HUWE1):c.12117C>T (p.Pro4039=)
NM_031407.7(HUWE1):c.12342G>C (p.Val4114=)
NM_031407.7(HUWE1):c.1237T>C (p.Leu413=)
NM_031407.7(HUWE1):c.12420A>G (p.Ser4140=)
NM_031407.7(HUWE1):c.12425+14A>G
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.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.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.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.13023-18T>C
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.145-7del
NM_031407.7(HUWE1):c.1467G>A (p.Glu489=)
NM_031407.7(HUWE1):c.1489+18A>C
NM_031407.7(HUWE1):c.1490-16C>T
NM_031407.7(HUWE1):c.1591+14G>A
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.169C>T (p.Leu57=)
NM_031407.7(HUWE1):c.1710A>G (p.Pro570=)
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.1821A>G (p.Val607=)
NM_031407.7(HUWE1):c.186T>C (p.Asp62=)
NM_031407.7(HUWE1):c.1875G>C (p.Gln625His)
NM_031407.7(HUWE1):c.193C>T (p.Leu65=)
NM_031407.7(HUWE1):c.1957+11A>C
NM_031407.7(HUWE1):c.2050-8C>T rs1603105426
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.2320-4C>G rs2148705916
NM_031407.7(HUWE1):c.2538T>A (p.Leu846=)
NM_031407.7(HUWE1):c.2553C>T (p.Ile851=)
NM_031407.7(HUWE1):c.2616A>G (p.Arg872=)
NM_031407.7(HUWE1):c.2640T>G (p.Val880=)
NM_031407.7(HUWE1):c.2677C>T (p.Leu893=)
NM_031407.7(HUWE1):c.2709C>T (p.Ile903=)
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.2743-13G>C
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+20A>C
NM_031407.7(HUWE1):c.2972-12A>G
NM_031407.7(HUWE1):c.2972-19C>G
NM_031407.7(HUWE1):c.2972-20C>A
NM_031407.7(HUWE1):c.2972-20C>T
NM_031407.7(HUWE1):c.2979A>G (p.Glu993=)
NM_031407.7(HUWE1):c.2982G>A (p.Gln994=)
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.3330T>C (p.Thr1110=)
NM_031407.7(HUWE1):c.3381-11T>C
NM_031407.7(HUWE1):c.3429T>C (p.Phe1143=)
NM_031407.7(HUWE1):c.3438G>A (p.Arg1146=)
NM_031407.7(HUWE1):c.3503+19C>T
NM_031407.7(HUWE1):c.352-287A>G rs1246834896
NM_031407.7(HUWE1):c.3526A>G (p.Met1176Val)
NM_031407.7(HUWE1):c.3973-5_3973-2del rs782250049
NM_031407.7(HUWE1):c.4096-6C>T
NM_031407.7(HUWE1):c.4134A>G (p.Ala1378=) rs1602928904
NM_031407.7(HUWE1):c.4251A>G (p.Glu1417=)
NM_031407.7(HUWE1):c.4359G>A (p.Glu1453=) rs1602922671
NM_031407.7(HUWE1):c.4461+16G>A
NM_031407.7(HUWE1):c.4462-10G>T rs1556975560
NM_031407.7(HUWE1):c.4462-13T>C
NM_031407.7(HUWE1):c.4518C>T (p.Asp1506=)
NM_031407.7(HUWE1):c.4560G>A (p.Leu1520=)
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.4669C>T (p.Leu1557=)
NM_031407.7(HUWE1):c.4743-13T>C
NM_031407.7(HUWE1):c.4743-7T>G
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.4966A>C (p.Arg1656=)
NM_031407.7(HUWE1):c.5001+12C>G
NM_031407.7(HUWE1):c.5001+14C>T
NM_031407.7(HUWE1):c.5002-12T>C
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.505-10C>G
NM_031407.7(HUWE1):c.505-19_505-18del
NM_031407.7(HUWE1):c.5064G>C (p.Leu1688=)
NM_031407.7(HUWE1):c.5140C>T (p.Arg1714Cys)
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.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.5583C>T (p.Ser1861=)
NM_031407.7(HUWE1):c.5661A>G (p.Glu1887=)
NM_031407.7(HUWE1):c.567+11C>G
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.5794C>T (p.Pro1932Ser)
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.5979A>G (p.Ser1993=)
NM_031407.7(HUWE1):c.6030+18G>A
NM_031407.7(HUWE1):c.6030+19C>T
NM_031407.7(HUWE1):c.6031-6C>T
NM_031407.7(HUWE1):c.6054T>C (p.Gly2018=)
NM_031407.7(HUWE1):c.6057C>T (p.Ala2019=)
NM_031407.7(HUWE1):c.6174A>G (p.Lys2058=)
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+18T>G
NM_031407.7(HUWE1):c.645+9G>A
NM_031407.7(HUWE1):c.645+9G>C
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.6707+7T>A
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.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.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.7623G>A (p.Gln2541=)
NM_031407.7(HUWE1):c.763-18T>C
NM_031407.7(HUWE1):c.7707C>G (p.Arg2569=)
NM_031407.7(HUWE1):c.7736+3G>A
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.7848C>T (p.Ile2616=)
NM_031407.7(HUWE1):c.7866G>A (p.Glu2622=)
NM_031407.7(HUWE1):c.7915+11G>A
NM_031407.7(HUWE1):c.7923G>A (p.Leu2641=)
NM_031407.7(HUWE1):c.8085A>G (p.Lys2695=)
NM_031407.7(HUWE1):c.8161-16T>C
NM_031407.7(HUWE1):c.8161-17A>G
NM_031407.7(HUWE1):c.8202C>G (p.Leu2734=) rs2147509778
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.8392A>C (p.Thr2798Pro) rs781986018
NM_031407.7(HUWE1):c.8429G>T (p.Gly2810Val)
NM_031407.7(HUWE1):c.843G>A (p.Leu281=)
NM_031407.7(HUWE1):c.8495-16T>C
NM_031407.7(HUWE1):c.8496C>G (p.Thr2832=)
NM_031407.7(HUWE1):c.862+10G>T
NM_031407.7(HUWE1):c.8636G>A (p.Ser2879Asn)
NM_031407.7(HUWE1):c.8693C>A (p.Ala2898Glu)
NM_031407.7(HUWE1):c.8693C>T (p.Ala2898Val)
NM_031407.7(HUWE1):c.8766C>T (p.Ser2922=)
NM_031407.7(HUWE1):c.8781C>T (p.Ser2927=)
NM_031407.7(HUWE1):c.8802C>A (p.Ala2934=)
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>C
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.9279T>C (p.Ala3093=)
NM_031407.7(HUWE1):c.9309G>T (p.Arg3103=)
NM_031407.7(HUWE1):c.9327T>C (p.His3109=)
NM_031407.7(HUWE1):c.9334C>T (p.Leu3112=)
NM_031407.7(HUWE1):c.936C>T (p.Val312=)
NM_031407.7(HUWE1):c.9479G>A (p.Ser3160Asn)
NM_031407.7(HUWE1):c.9488+8T>C
NM_031407.7(HUWE1):c.9489-15A>G
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.9906G>A (p.Gln3302=)
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
NM_031407.7(HUWE1):c.9947C>G (p.Ala3316Gly)
NM_031407.7(HUWE1):c.9951C>T (p.Ser3317=)
NM_031407.7(HUWE1):c.9990T>C (p.Pro3330=)
NM_031407.7(HUWE1):c.999A>G (p.Ser333=)
Single allele rs1556502223

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