ClinVar Miner

Variants in gene ASS1 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 Variants with at least 2 submissions 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 kind of conflict
159 23 0 42 12 1 16 61

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 association drug response protective
pathogenic 0 29 10 2 2 1 1 1
likely pathogenic 28 0 9 0 0 0 0 0
uncertain significance 9 9 0 12 3 0 0 0
likely benign 1 0 12 0 13 0 0 0
benign 1 0 3 13 0 0 0 0

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
NM_000050.4(ASS1):c.-323G>T rs2071367
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_054012.4(ASS1):c.-4C>T rs138350285
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537
NM_054012.4(ASS1):c.106-10T>G rs73541957
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_054012.4(ASS1):c.174+4C>A rs368133957
NM_054012.4(ASS1):c.175-16G>T rs373936572
NM_054012.4(ASS1):c.240C>T (p.Ser80=) rs147910468
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959
NM_054012.4(ASS1):c.363+16A>G rs191432165
NM_054012.4(ASS1):c.364-6T>C rs116103138
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_054012.4(ASS1):c.420+13T>G rs201883474
NM_054012.4(ASS1):c.450_451del (p.Phe150fs) rs786204648
NM_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637
NM_054012.4(ASS1):c.496-2A>G rs398123130
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643
NM_054012.4(ASS1):c.566+11C>T rs200527708
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000
NM_054012.4(ASS1):c.584T>C (p.Leu195Pro) rs796051936
NM_054012.4(ASS1):c.597+8C>T rs77343702
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054012.4(ASS1):c.688+4T>C rs78432485
NM_054012.4(ASS1):c.765C>T (p.Asn255=) rs375579096
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032
NM_054012.4(ASS1):c.773+1G>A rs982830431
NM_054012.4(ASS1):c.773+49C>T rs763389916
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_054012.4(ASS1):c.838+1G>T rs750214431
NM_054012.4(ASS1):c.846C>T (p.Tyr282=) rs549085827
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln) rs121908648
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter) rs1301613270
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639
NM_054012.4(ASS1):c.99C>T (p.Ala33=) rs147842617
Single allele

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