ClinVar Miner

Variants in gene MBD5 with conflicting interpretations

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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
1364 65 0 23 51 0 3 66

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 3 0 0 0
likely pathogenic 4 0 3 2 2
uncertain significance 0 2 0 49 10
likely benign 0 2 49 0 19
benign 0 2 10 19 0

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) rs35934694 0.00074
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_001378120.1(MBD5):c.-831+9dup rs796052705 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile) rs145808884 0.00047
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) rs147455836 0.00040
NM_001378120.1(MBD5):c.471A>G (p.Thr157=) rs138433455 0.00040
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00038
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=) rs371014306 0.00021
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) rs376756158 0.00014
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) rs183855575 0.00012
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala) rs756608508 0.00009
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr) rs776228346 0.00004
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.2095A>C (p.Ser699Arg) rs774227790 0.00003
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) rs200985982 0.00003
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln) rs200245855 0.00003
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=) rs779662045 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001378120.1(MBD5):c.258C>T (p.Thr86=) rs542137271 0.00002
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702 0.00001
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr) rs1422887607 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser) rs1472737578 0.00001
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu) rs773267074 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu) rs878910680
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) rs1024254683
NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter) rs1553518593
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) rs767521281
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=) rs138058889
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) rs752035001
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
Single allele

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