ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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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.46-235T>G rs3788948 0.49223
NM_031407.7(HUWE1):c.46-225T>G rs3788947 0.45535
NM_031407.7(HUWE1):c.6097+125T>G rs35473057 0.45054
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_031407.7(HUWE1):c.12532-191C>G rs3747437 0.40043
NM_031407.7(HUWE1):c.1957+260T>C rs12861474 0.39786
NM_031407.7(HUWE1):c.5716+37T>G rs266786 0.34800
NM_031407.7(HUWE1):c.3380+69A>T rs1244413 0.34688
NM_031407.7(HUWE1):c.46-220G>T rs12387304 0.15848
NM_031407.7(HUWE1):c.46-240G>T rs12387306 0.15089
NM_031407.7(HUWE1):c.46-235_46-234insG rs60084410 0.12074
NM_031407.7(HUWE1):c.6030+161A>C rs113037415 0.09519
NM_031407.7(HUWE1):c.11996+197C>T rs45513301 0.05353
NM_031407.7(HUWE1):c.11632+25G>C rs111723336 0.04525
NM_031407.7(HUWE1):c.5716+49A>G rs112527868 0.04506
NM_031407.7(HUWE1):c.8161-30C>T rs17276588 0.04214
NM_031407.7(HUWE1):c.2497-164T>G rs145409781 0.04182
NM_031407.7(HUWE1):c.11251+106C>G rs73494279 0.04127
NM_031407.7(HUWE1):c.2496+150A>C rs138098690 0.02542
NM_031407.7(HUWE1):c.1448A>G (p.Asn483Ser) rs41307640 0.01900
NM_031407.7(HUWE1):c.5716+135T>C rs112960727 0.01662
NM_031407.7(HUWE1):c.5717-87T>C rs112544918 0.01659
NM_031407.7(HUWE1):c.8694G>A (p.Ala2898=) rs61742949 0.01493
NM_031407.7(HUWE1):c.568-62G>A rs141567766 0.01475
NM_031407.7(HUWE1):c.504+300T>C rs142606157 0.01471
NM_031407.7(HUWE1):c.2262-17C>A rs143891272 0.01465
NM_031407.7(HUWE1):c.7736+154_7736+155del rs200936982 0.01446
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.12426-49C>T rs2234477 0.00884
NM_031407.7(HUWE1):c.10278C>T (p.Leu3426=) rs146554767 0.00775
NM_031407.7(HUWE1):c.10101G>A (p.Arg3367=) rs41306894 0.00734
NM_031407.7(HUWE1):c.6097+7A>C rs147480463 0.00694
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.8495-20T>C rs181550223 0.00576
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968 0.00558
NM_031407.7(HUWE1):c.9360A>G (p.Ala3120=) rs2281481 0.00353
NM_031407.7(HUWE1):c.4743-18A>T rs148439022 0.00344
NM_031407.7(HUWE1):c.646-18T>C rs199711260 0.00273
NM_031407.7(HUWE1):c.2261+10T>G rs182313670 0.00187
NM_031407.7(HUWE1):c.11380-45A>G rs186467701 0.00160
NM_031407.7(HUWE1):c.5716+15C>T rs183871461 0.00146
NM_031407.7(HUWE1):c.12649+16C>G rs190851126 0.00145
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
NM_031407.7(HUWE1):c.12649+49C>T rs186050283 0.00137
NM_031407.7(HUWE1):c.4462-50C>G rs372659557 0.00135
NM_031407.7(HUWE1):c.4096-31A>G rs147957078 0.00119
NM_031407.7(HUWE1):c.6313-44A>G rs371832200 0.00114
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.6880+44C>T rs56223755 0.00103
NM_031407.7(HUWE1):c.4095+12C>G rs186597579 0.00102
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.10637-31G>C rs377658627 0.00088
NM_031407.7(HUWE1):c.8206+82T>G rs188750715 0.00085
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.12582C>G (p.Ala4194=) rs138323283 0.00078
NM_031407.7(HUWE1):c.6313-48T>C rs374068586 0.00075
NM_031407.7(HUWE1):c.6881-44A>G rs201567094 0.00069
NM_031407.7(HUWE1):c.12650-40T>C rs368134494 0.00061
NM_031407.7(HUWE1):c.2320-22T>A rs201870800 0.00059
NM_031407.7(HUWE1):c.9213T>C (p.Arg3071=) rs112038748 0.00058
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.12649+22C>G rs145617440 0.00052
NM_031407.7(HUWE1):c.5885-8T>C rs146431063 0.00052
NM_031407.7(HUWE1):c.654T>C (p.Ser218=) rs148129382 0.00050
NM_031407.7(HUWE1):c.2784A>G (p.Gln928=) rs148400203 0.00043
NM_031407.7(HUWE1):c.8750+31A>C rs201400423 0.00043
NM_031407.7(HUWE1):c.-24-27A>G rs368604606 0.00042
NM_031407.7(HUWE1):c.9432C>G (p.Arg3144=) rs76351631 0.00039
NM_031407.7(HUWE1):c.12426-42C>G rs199784760 0.00038
NM_031407.7(HUWE1):c.9097-32A>T rs111394245 0.00034
NM_031407.7(HUWE1):c.10497C>T (p.Ser3499=) rs374436582 0.00032
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.352-17C>G rs371300686 0.00029
NM_031407.7(HUWE1):c.7916-52A>C rs185822455 0.00026
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val) rs142574684 0.00025
NM_031407.7(HUWE1):c.12672G>A (p.Ala4224=) rs367851321 0.00024
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=) rs149577148 0.00024
NM_031407.7(HUWE1):c.10611C>G (p.Pro3537=) rs370282010 0.00023
NM_031407.7(HUWE1):c.12762G>A (p.Leu4254=) rs143818136 0.00022
NM_031407.7(HUWE1):c.1489+49C>T rs186947005 0.00022
NM_031407.7(HUWE1):c.12330C>T (p.Val4110=) rs375367345 0.00020
NM_031407.7(HUWE1):c.1673-12A>C rs200109682 0.00020
NM_031407.7(HUWE1):c.6525-41G>A rs377564086 0.00018
NM_031407.7(HUWE1):c.12137+17G>A rs782663067 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.8548A>T (p.Ser2850Cys) rs376473006 0.00015
NM_031407.7(HUWE1):c.10261A>T (p.Thr3421Ser) rs781983186 0.00014
NM_031407.7(HUWE1):c.12532-34C>G rs782793306 0.00014
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.8742T>G (p.Pro2914=) rs782554995 0.00011
NM_031407.7(HUWE1):c.5938C>T (p.Leu1980=) rs782654707 0.00010
NM_031407.7(HUWE1):c.10809C>T (p.Asn3603=) rs201891783 0.00009
NM_031407.7(HUWE1):c.2216A>G (p.Gln739Arg) rs782430909 0.00009
NM_031407.7(HUWE1):c.5586C>T (p.Leu1862=) rs142982950 0.00009
NM_031407.7(HUWE1):c.72C>G (p.Asp24Glu) rs375073885 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.9486C>T (p.Asn3162=) rs150660551 0.00008
NM_031407.7(HUWE1):c.10671G>A (p.Ala3557=) rs377645670 0.00007
NM_031407.7(HUWE1):c.11477-6C>T rs1269602767 0.00007
NM_031407.7(HUWE1):c.4462-36C>T rs201974714 0.00007
NM_031407.7(HUWE1):c.9357C>T (p.Ser3119=) rs143862848 0.00007
NM_031407.7(HUWE1):c.147C>T (p.Cys49=) rs149435515 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.3294G>A (p.Ala1098=) rs782368092 0.00005
NM_031407.7(HUWE1):c.5952T>C (p.Gly1984=) rs782202317 0.00005
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.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.11632+13C>T rs781937768 0.00003
NM_031407.7(HUWE1):c.1673-29G>A rs201998952 0.00003
NM_031407.7(HUWE1):c.6525-20T>C rs782445167 0.00003
NM_031407.7(HUWE1):c.957G>T (p.Gln319His) rs782234241 0.00003
NM_031407.7(HUWE1):c.13023-36T>C rs199736049 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.8964G>A (p.Gln2988=) rs781914947 0.00002
NM_031407.7(HUWE1):c.10035+22C>T rs782244693 0.00001
NM_031407.7(HUWE1):c.10035+6G>A rs782009073 0.00001
NM_031407.7(HUWE1):c.10221C>T (p.Ser3407=) rs781788404 0.00001
NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu) rs1430366832 0.00001
NM_031407.7(HUWE1):c.762+42T>C rs191572518 0.00001
NM_031407.7(HUWE1):c.9386-21T>G rs782404422 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.10005C>T (p.His3335=)
NM_031407.7(HUWE1):c.10027T>C (p.Leu3343=)
NM_031407.7(HUWE1):c.10035+19A>G
NM_031407.7(HUWE1):c.10036-6C>T
NM_031407.7(HUWE1):c.10036-9T>A
NM_031407.7(HUWE1):c.10075A>G (p.Thr3359Ala)
NM_031407.7(HUWE1):c.10243G>A (p.Ala3415Thr)
NM_031407.7(HUWE1):c.10434C>T (p.Ser3478=) rs782089185
NM_031407.7(HUWE1):c.10491C>T (p.Ala3497=)
NM_031407.7(HUWE1):c.10503G>A (p.Thr3501=)
NM_031407.7(HUWE1):c.11048+3G>A
NM_031407.7(HUWE1):c.1114+13G>A
NM_031407.7(HUWE1):c.11339G>A (p.Arg3780His)
NM_031407.7(HUWE1):c.11418G>A (p.Glu3806=)
NM_031407.7(HUWE1):c.11476+15del
NM_031407.7(HUWE1):c.11529G>A (p.Glu3843=)
NM_031407.7(HUWE1):c.11633-264dup rs34154526
NM_031407.7(HUWE1):c.11649C>T (p.Val3883=)
NM_031407.7(HUWE1):c.11781G>A (p.Thr3927=)
NM_031407.7(HUWE1):c.11847C>T (p.Pro3949=)
NM_031407.7(HUWE1):c.11878+110GT[13] rs781962529
NM_031407.7(HUWE1):c.11878+111T>A rs3008197
NM_031407.7(HUWE1):c.11878+112_11878+113insGA rs879987418
NM_031407.7(HUWE1):c.11878+112_11878+113insGAGA rs879987418
NM_031407.7(HUWE1):c.11878+83AG[16] rs782578229
NM_031407.7(HUWE1):c.11878+83AG[17] rs782578229
NM_031407.7(HUWE1):c.11879-10C>T
NM_031407.7(HUWE1):c.11879-5C>T
NM_031407.7(HUWE1):c.1242+10dup rs781865515
NM_031407.7(HUWE1):c.1242+27_1242+28del rs781865515
NM_031407.7(HUWE1):c.1242+28del rs781865515
NM_031407.7(HUWE1):c.12531+204_12531+205dup rs34675759
NM_031407.7(HUWE1):c.12531+204dup rs34675759
NM_031407.7(HUWE1):c.12579G>A (p.Gly4193=)
NM_031407.7(HUWE1):c.12777C>A (p.Ile4259=)
NM_031407.7(HUWE1):c.1281A>G (p.Thr427=)
NM_031407.7(HUWE1):c.12864C>T (p.Phe4288=)
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.12903A>G (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.1384-50= rs424024
NM_031407.7(HUWE1):c.1384-52= rs424022
NM_031407.7(HUWE1):c.1489+13T>C
NM_031407.7(HUWE1):c.1672+132= rs155440
NM_031407.7(HUWE1):c.1673-18T>C
NM_031407.7(HUWE1):c.1673-3dup
NM_031407.7(HUWE1):c.1958-255dup rs199575386
NM_031407.7(HUWE1):c.2148A>G (p.Pro716=)
NM_031407.7(HUWE1):c.2636A>G (p.Asn879Ser)
NM_031407.7(HUWE1):c.2742+16G>C
NM_031407.7(HUWE1):c.3115A>C (p.Thr1039Pro)
NM_031407.7(HUWE1):c.3163+9T>C rs144602282
NM_031407.7(HUWE1):c.3330T>G (p.Thr1110=)
NM_031407.7(HUWE1):c.3495T>C (p.Ala1165=)
NM_031407.7(HUWE1):c.3503+11A>C
NM_031407.7(HUWE1):c.3504-14T>G
NM_031407.7(HUWE1):c.3504-323A>G rs266784
NM_031407.7(HUWE1):c.351+16G>C
NM_031407.7(HUWE1):c.352-257C>T rs1482159553
NM_031407.7(HUWE1):c.352-285A>T rs80143497
NM_031407.7(HUWE1):c.352-285del rs61113955
NM_031407.7(HUWE1):c.352-287A>T rs1246834896
NM_031407.7(HUWE1):c.352-287del rs61456936
NM_031407.7(HUWE1):c.3534T>C (p.Gly1178=)
NM_031407.7(HUWE1):c.3973-14C>T
NM_031407.7(HUWE1):c.4165A>G (p.Met1389Val)
NM_031407.7(HUWE1):c.4191+17G>A
NM_031407.7(HUWE1):c.4191+7A>G
NM_031407.7(HUWE1):c.4192-10C>T
NM_031407.7(HUWE1):c.4192-15del
NM_031407.7(HUWE1):c.4206G>A (p.Arg1402=)
NM_031407.7(HUWE1):c.4290G>A (p.Pro1430=)
NM_031407.7(HUWE1):c.4362G>C (p.Leu1454=)
NM_031407.7(HUWE1):c.4446G>A (p.Lys1482=)
NM_031407.7(HUWE1):c.4462-11dup
NM_031407.7(HUWE1):c.46-219dup rs1557037695
NM_031407.7(HUWE1):c.46-234_46-233insTG rs201540143
NM_031407.7(HUWE1):c.4764C>T (p.Leu1588=)
NM_031407.7(HUWE1):c.4825-20C>G
NM_031407.7(HUWE1):c.4977G>A (p.Thr1659=)
NM_031407.7(HUWE1):c.5001+18A>C
NM_031407.7(HUWE1):c.5025A>G (p.Arg1675=) rs782240883
NM_031407.7(HUWE1):c.504+5G>A
NM_031407.7(HUWE1):c.5226C>T (p.Ile1742=)
NM_031407.7(HUWE1):c.5559T>C (p.Thr1853=)
NM_031407.7(HUWE1):c.5631C>T (p.Ala1877=)
NM_031407.7(HUWE1):c.568-11dup rs112428926
NM_031407.7(HUWE1):c.568-15del
NM_031407.7(HUWE1):c.5721A>C (p.Ser1907=)
NM_031407.7(HUWE1):c.5784C>A (p.Thr1928=)
NM_031407.7(HUWE1):c.5987G>A (p.Arg1996His)
NM_031407.7(HUWE1):c.6055G>A (p.Ala2019Thr)
NM_031407.7(HUWE1):c.6180G>A (p.Lys2060=)
NM_031407.7(HUWE1):c.623C>T (p.Ala208Val)
NM_031407.7(HUWE1):c.6313-10del
NM_031407.7(HUWE1):c.6408C>T (p.Leu2136=)
NM_031407.7(HUWE1):c.6426A>G (p.Ala2142=)
NM_031407.7(HUWE1):c.646-9T>A
NM_031407.7(HUWE1):c.6524+13C>T
NM_031407.7(HUWE1):c.6633C>T (p.Asn2211=)
NM_031407.7(HUWE1):c.6708-18_6708-13del
NM_031407.7(HUWE1):c.694-16dup rs200857205
NM_031407.7(HUWE1):c.694-8del rs200857205
NM_031407.7(HUWE1):c.729T>C (p.Leu243=)
NM_031407.7(HUWE1):c.7507+19G>A
NM_031407.7(HUWE1):c.7507+9C>T
NM_031407.7(HUWE1):c.7508-13A>G
NM_031407.7(HUWE1):c.7974C>T (p.Leu2658=)
NM_031407.7(HUWE1):c.8006-19T>G
NM_031407.7(HUWE1):c.8207-18T>C
NM_031407.7(HUWE1):c.8214G>A (p.Thr2738=)
NM_031407.7(HUWE1):c.8310G>A (p.Gln2770=)
NM_031407.7(HUWE1):c.8495-11C>A
NM_031407.7(HUWE1):c.8517T>G (p.Ala2839=)
NM_031407.7(HUWE1):c.862+261= rs11317885
NM_031407.7(HUWE1):c.8641G>C (p.Glu2881Gln)
NM_031407.7(HUWE1):c.867T>C (p.Tyr289=)
NM_031407.7(HUWE1):c.8739A>G (p.Pro2913=)
NM_031407.7(HUWE1):c.8820C>T (p.Ser2940=)
NM_031407.7(HUWE1):c.9386-12C>T
NM_031407.7(HUWE1):c.9402A>G (p.Leu3134=)
NM_031407.7(HUWE1):c.9488+11C>T
NM_031407.7(HUWE1):c.9488+13A>G
NM_031407.7(HUWE1):c.9603T>C (p.Asn3201=)
NM_031407.7(HUWE1):c.9654C>G (p.Thr3218=)
NM_031407.7(HUWE1):c.9690G>A (p.Leu3230=)
NM_031407.7(HUWE1):c.9852C>T (p.Ser3284=)
Single allele rs1556502214

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