ClinVar Miner

Variants in gene OBSL1 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
919 106 0 19 20 0 4 41

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 1 1 0 0
likely pathogenic 1 0 3 0 0
uncertain significance 1 3 0 18 4
likely benign 0 0 18 0 18
benign 0 0 4 18 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00337
NM_015311.3(OBSL1):c.3595C>T (p.Arg1199Trp) rs143517287 0.00274
NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=) rs200349173 0.00270
NM_015311.3(OBSL1):c.1734G>A (p.Pro578=) rs181182663 0.00256
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279 0.00255
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) rs79295927 0.00155
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=) rs146306059 0.00140
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) rs199936876 0.00114
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) rs200543358 0.00098
NM_015311.3(OBSL1):c.2407+11A>G rs62191613 0.00096
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
NM_015311.3(OBSL1):c.4060G>A (p.Val1354Met) rs144083909 0.00050
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489 0.00026
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 0.00024
NM_015311.3(OBSL1):c.1283-9G>A rs376967214 0.00022
NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter) rs561778744 0.00018
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser) rs74589174 0.00014
NM_015311.3(OBSL1):c.4745G>A (p.Gly1582Glu) rs201690766 0.00014
NM_015311.3(OBSL1):c.342C>T (p.Ala114=) rs760053992 0.00009
NM_015311.3(OBSL1):c.993C>A (p.Ala331=) rs771686909 0.00009
NM_015311.3(OBSL1):c.2661C>T (p.Tyr887=) rs574451794 0.00008
NM_015311.3(OBSL1):c.4609+12G>A rs367810594 0.00006
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=) rs374001837 0.00004
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) rs1057518717 0.00002
NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=) rs533142740 0.00001
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) rs375716830
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs) rs1434485676
NM_015311.3(OBSL1):c.4732_4733inv (p.Gln1578Trp)
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=) rs564855597
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) rs140825693
NM_015311.3(OBSL1):c.892C>T (p.Arg298Cys)

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