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 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
284 27 0 36 15 0 7 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 0 27 6 1 1
likely pathogenic 27 0 3 0 0
uncertain significance 6 3 0 15 3
likely benign 1 0 15 0 9
benign 1 0 3 9 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537
NM_054012.4(ASS1):c.1056C>T (p.Ser352=) rs766889925
NM_054012.4(ASS1):c.106-10T>G rs73541957
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724
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.1165A>G (p.Thr389Ala) rs145288815
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_054012.4(ASS1):c.174+10G>A rs371597908
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_054012.4(ASS1):c.174+4C>A rs368133957
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.319del (p.Gln107fs) rs1564903969
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877
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.39C>T (p.Gly13=) rs769672308
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_054012.4(ASS1):c.450_451del (p.Phe150fs) rs786204648
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.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.605C>A (p.Ala202Glu) rs376371866
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.786C>T (p.Gly262=) rs536799104
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.858A>T (p.Ala286=) rs201905628
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721
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

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