ClinVar Miner

Variants with conflicting interpretations studied for Argininosuccinate lyase deficiency

Coded as:
Minimum review status of the submission for Argininosuccinate lyase deficiency: Collection method of the submission for Argininosuccinate lyase deficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
648 60 0 54 22 0 30 95

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.

All conditions
Argininosuccinate lyase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 49 18 0 0
likely pathogenic 49 0 23 0 0
uncertain significance 18 23 0 21 1
likely benign 0 0 21 0 5
benign 0 0 1 5 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Argininosuccinate lyase deficiency 648 60 0 54 22 0 30 95

All variants with conflicting interpretations #

Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000048.4(ASL):c.399G>A (p.Ser133=) rs141584041 0.00057
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867 0.00022
NM_000048.4(ASL):c.655+8G>A rs200203985 0.00019
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328 0.00013
NM_000048.4(ASL):c.1047C>G (p.Val349=) rs187877947 0.00011
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112 0.00011
NM_000048.4(ASL):c.1342G>A (p.Val448Ile) rs139410488 0.00008
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051 0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000048.4(ASL):c.72C>T (p.Phe24=) rs760059034 0.00008
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp) rs759396688 0.00006
NM_000048.4(ASL):c.401G>A (p.Gly134Asp) rs201352504 0.00006
NM_000048.4(ASL):c.1263G>A (p.Ser421=) rs542163407 0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834 0.00005
NM_000048.4(ASL):c.1063-8G>A rs548397162 0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550 0.00003
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000048.4(ASL):c.338G>A (p.Arg113Gln) rs752783461 0.00002
NM_000048.4(ASL):c.62T>C (p.Met21Thr) rs774392615 0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln) rs1449589636 0.00002
NM_000048.4(ASL):c.918+5G>A rs781331391 0.00002
NM_000048.4(ASL):c.919-4G>A rs756230523 0.00002
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter) rs764546937 0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His) rs200853731 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp) rs770167670 0.00001
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp) rs727503812 0.00001
NM_000048.4(ASL):c.1230G>C (p.Leu410=) rs1397223617 0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 0.00001
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn) rs771012029 0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly) rs752100894 0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) rs28940585 0.00001
NM_000048.4(ASL):c.292G>T (p.Glu98Ter) rs770375565 0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp) rs138310841 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.349-1G>A rs1395478201 0.00001
NM_000048.4(ASL):c.376C>T (p.Arg126Trp) rs201962738 0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00001
NM_000048.4(ASL):c.446+2T>C rs1268519003 0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu) rs769017508 0.00001
NM_000048.4(ASL):c.474C>T (p.Tyr158=) rs1361999742 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516 0.00001
NM_000048.4(ASL):c.602+1G>A rs398123127 0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000048.4(ASL):c.720C>T (p.Ala240=) rs764072757 0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala) rs924321091 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000048.4(ASL):c.890G>A (p.Arg297Gln) rs750431938 0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn) rs754995756 0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037 0.00001
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) rs1786857910
NM_000048.4(ASL):c.1095C>T (p.Ser365=) rs749559501
NM_000048.4(ASL):c.111_133del (p.Asp38fs) rs1554326267
NM_000048.4(ASL):c.1207del (p.Val403fs) rs1554328363
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) rs1554328459
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) rs773071023
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter) rs932494060
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter) rs869312994
NM_000048.4(ASL):c.1395G>A (p.Ter465=) rs1339615185
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.402C>A (p.Gly134=) rs1308519514
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931
NM_000048.4(ASL):c.486G>A (p.Gln162=) rs1786669549
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.509G>A (p.Ser170Asn) rs1180650883
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.603-1G>C rs1584028936
NM_000048.4(ASL):c.614C>T (p.Ala205Val) rs796051925
NM_000048.4(ASL):c.631_647del (p.Val211fs) rs1554327181
NM_000048.4(ASL):c.656-3dup rs778811159
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.675C>G (p.Ile225Met) rs1554327265
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.735G>A (p.Trp245Ter) rs1554327573
NM_000048.4(ASL):c.834-1G>A
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)
NM_000048.4(ASL):c.99C>G (p.His33Gln) rs142077823

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.