ClinVar Miner

Variants in gene HUWE1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 51
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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.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.8495-20T>C rs181550223 0.00576
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968 0.00558
NM_031407.7(HUWE1):c.4743-18A>T rs148439022 0.00344
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.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.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.8687C>T (p.Ala2896Val) rs142574684 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.5642A>G (p.Asn1881Ser) rs201965065 0.00015
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.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.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.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.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.12903= (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.2636A>G (p.Asn879Ser)
NM_031407.7(HUWE1):c.5025A>G (p.Arg1675=) rs782240883
NM_031407.7(HUWE1):c.5987G>A (p.Arg1996His)
NM_031407.7(HUWE1):c.694-8del rs200857205
Single allele rs1556502223

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