ClinVar Miner

Variants in gene MAN1B1 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
387 41 0 15 32 0 3 46

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 2 1 0 0
likely pathogenic 2 0 1 1 0
uncertain significance 1 1 0 30 5
likely benign 0 1 30 0 13
benign 0 0 5 13 0

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965 0.00135
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_016219.5(MAN1B1):c.1287C>T (p.His429=) rs145524720 0.00038
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His) rs374247020 0.00014
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530 0.00012
NM_016219.5(MAN1B1):c.1065+11T>C rs200147487 0.00007
NM_016219.5(MAN1B1):c.1765-9C>T rs977693376 0.00006
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.620+9C>T rs535697514 0.00004
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=) rs777042053 0.00003
NM_016219.5(MAN1B1):c.1255-13C>T rs765403325 0.00002
NM_016219.5(MAN1B1):c.1764+9G>C rs377406887 0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=) rs202157161 0.00002
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=) rs776601946 0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=) rs754107444 0.00001
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=) rs150436630 0.00001
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=) rs746212127 0.00001
NM_016219.5(MAN1B1):c.639C>T (p.Ile213=) rs368545529 0.00001
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) rs750236367 0.00001
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688

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