ClinVar Miner

Variants in gene DBT 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
684 50 0 36 10 0 16 58

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
pathogenic 0 21 12 0 0
likely pathogenic 21 0 7 0 0
uncertain significance 12 7 0 10 3
likely benign 0 0 10 0 15
benign 0 0 3 15 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.03046
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_001918.5(DBT):c.1282-13_1282-9del rs761681999 0.00456
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_001918.5(DBT):c.175+37G>A rs76902654 0.00154
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_001918.5(DBT):c.37A>G (p.Asn13Asp) rs140308307 0.00024
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_001918.5(DBT):c.1281+5A>G rs199571242 0.00006
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 0.00005
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg) rs398123662 0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.52-1G>A rs755914063 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1282-14_1282-10del rs752915898
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) rs772490888
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter) rs749366506
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) rs1553228626
NM_001918.5(DBT):c.1389C>T (p.Phe463=) rs886044964
NM_001918.5(DBT):c.143_146dup (p.His49fs) rs1384034981
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.29G>A (p.Trp10Ter) rs572340170
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_001918.5(DBT):c.457del (p.Thr153fs)
NM_001918.5(DBT):c.51+1G>C
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.5(DBT):c.788T>C (p.Met263Thr) rs1553230703
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) rs1662088383

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