ClinVar Miner

Variants in gene ASL 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
229 28 2 23 15 0 13 51

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 2 16 6 0 0
likely pathogenic 16 0 8 0 0
uncertain significance 6 8 0 14 1
likely benign 0 0 14 0 7
benign 0 0 1 7 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888
NM_000048.4(ASL):c.1045_1057del (p.Val349fs) rs796051933
NM_000048.4(ASL):c.1047C>G (p.Val349=)
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.4(ASL):c.1063-8G>A rs548397162
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353
NM_000048.4(ASL):c.1263G>A (p.Ser421=) rs542163407
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304
NM_000048.4(ASL):c.292G>T (p.Glu98Ter) rs770375565
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815
NM_000048.4(ASL):c.399G>A (p.Ser133=) rs141584041
NM_000048.4(ASL):c.401G>A (p.Gly134Asp) rs201352504
NM_000048.4(ASL):c.402C>A (p.Gly134=)
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931
NM_000048.4(ASL):c.446+2T>C rs1268519003
NM_000048.4(ASL):c.474C>T (p.Tyr158=)
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.576G>A (p.Lys192=) rs115468878
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663
NM_000048.4(ASL):c.602+1G>A rs398123127
NM_000048.4(ASL):c.631_647del (p.Val211fs) rs1554327181
NM_000048.4(ASL):c.655+8G>A rs200203985
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.72C>T (p.Phe24=) rs760059034
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834
NM_000048.4(ASL):c.918+5G>A rs781331391
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938

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