ClinVar Miner

Variants in gene INPP5E with conflicting interpretations

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
664 38 0 29 21 0 11 60

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 4 3 0 0
likely pathogenic 4 0 8 0 0
uncertain significance 3 8 0 16 5
likely benign 0 0 16 0 25
benign 0 0 5 25 0

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_019892.6(INPP5E):c.1159+30T>A rs144347039 0.01729
NM_019892.6(INPP5E):c.1159+26C>T rs140797474 0.01671
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01500
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378 0.01340
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296 0.01135
NM_019892.6(INPP5E):c.1387+19C>T rs114698406 0.00926
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175 0.00685
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633 0.00272
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033 0.00135
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446 0.00100
NM_019892.6(INPP5E):c.813-8C>T rs373176644 0.00061
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324 0.00012
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945 0.00009
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275 0.00006
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_019892.6(INPP5E):c.1388-5C>T rs187956407 0.00004
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407 0.00002
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991 0.00002
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172 0.00001
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 0.00001
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=) rs760729838 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00001
NM_019892.6(INPP5E):c.1034+8G>A rs201272028
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345

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.