ClinVar Miner

Variants in gene HUWE1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1120 81 0 59 25 1 5 80

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 8 2 0 0 0 0
likely pathogenic 8 0 4 0 0 0 0
uncertain significance 2 4 0 16 13 0 0
likely benign 1 1 17 0 51 1 1
benign 1 1 14 51 0 1 1

All variants with conflicting interpretations #

Total variants: 80
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.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.654T>C (p.Ser218=) rs148129382 0.00050
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.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.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.11477-6C>T rs1269602767 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.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.11996+9C>T rs782772316 0.00003
NM_031407.7(HUWE1):c.957G>T (p.Gln319His) rs782234241 0.00003
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val) rs781928056 0.00002
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=) rs782115290 0.00002
NM_031407.7(HUWE1):c.1243-8C>T rs781931508 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_031407.7(HUWE1):c.12980G>A (p.Arg4327Gln) rs1290768701 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.10035+6G>A rs782009073 0.00001
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr) rs782307186 0.00001
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro) rs1012962799 0.00001
NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu) rs1430366832 0.00001
NM_031407.7(HUWE1):c.9802C>T (p.Pro3268Ser) rs1045935059 0.00001
NM_031407.7(HUWE1):c.10476CAC[3] (p.Thr3496del)
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.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.7(HUWE1):c.2636A>G (p.Asn879Ser)
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
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
NM_031407.7(HUWE1):c.8206+6T>C
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
Single allele rs1556502214

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.