ClinVar Miner

Variants in gene JUP 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
900 150 0 52 54 0 2 105

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 0 1 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 1 1 0 51 8
likely benign 0 0 51 0 52
benign 0 0 8 52 0

All variants with conflicting interpretations #

Total variants: 105
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686 0.00021
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028 0.00014
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.4(JUP):c.1159-20G>A rs782463183 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_002230.4(JUP):c.608G>A (p.Arg203His) rs200221163 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495 0.00009
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 0.00007
NM_002230.4(JUP):c.356C>T (p.Pro119Leu) rs376123010 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002230.4(JUP):c.1055-14del rs140002183 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854 0.00006
NM_002230.4(JUP):c.778G>A (p.Ala260Thr) rs149623442 0.00006
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709 0.00005
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.115A>G (p.Ser39Gly) rs782211863 0.00004
NM_002230.4(JUP):c.1280C>T (p.Thr427Met) rs781982717 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) rs781883243 0.00004
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) rs781804177 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) rs369755953 0.00003
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn) rs782261124 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179 0.00003
NM_002230.4(JUP):c.-4C>T rs782493861 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1784C>T (p.Ser595Leu) rs782130740 0.00002
NM_002230.4(JUP):c.351C>T (p.Ala117=) rs397517300 0.00002
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002230.4(JUP):c.1908C>T (p.Ser636=) rs782122765 0.00001
NM_002230.4(JUP):c.1925-19T>G rs545000698 0.00001
NM_002230.4(JUP):c.209-8G>A rs1165044090 0.00001
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744 0.00001
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00001
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu) rs782509792 0.00001
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.2055C>T (p.Ser685=) rs1913708075
NM_002230.4(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_002230.4(JUP):c.375G>A (p.Ser125=) rs111344340
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.708-3dup rs782230165
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392

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