ClinVar Miner

Variants in gene CPS1 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
184 25 0 24 16 1 3 41

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 risk factor
pathogenic 0 2 1 0 0 0
likely pathogenic 2 0 2 0 0 0
uncertain significance 1 2 0 11 8 0
likely benign 0 0 11 0 22 0
benign 0 0 8 22 0 1
risk factor 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_001875.4(CPS1):c.-29T>G rs147937942
NM_001875.4(CPS1):c.-4_-3insTTC rs61509952
NM_001875.4(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.4(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.4(CPS1):c.1032C>T (p.Thr344=) rs2229589
NM_001875.4(CPS1):c.1068C>G (p.Val356=) rs34022862
NM_001875.4(CPS1):c.1087-7C>T rs202117044
NM_001875.4(CPS1):c.1165-5T>C rs565003226
NM_001875.4(CPS1):c.1359+7G>A rs16844647
NM_001875.4(CPS1):c.1437G>A (p.Ala479=) rs80261173
NM_001875.4(CPS1):c.1926delC (p.Asp642Glufs) rs1326644714
NM_001875.4(CPS1):c.195C>T (p.Ser65=) rs192759073
NM_001875.4(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_001875.4(CPS1):c.2192+6A>T rs201058019
NM_001875.4(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.4(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.4(CPS1):c.2394C>A (p.Val798=) rs35678745
NM_001875.4(CPS1):c.2421G>A (p.Glu807=) rs140726293
NM_001875.4(CPS1):c.2448C>T (p.Cys816=) rs75395645
NM_001875.4(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.4(CPS1):c.2809_2810delAT (p.Ile937Profs) rs1318756445
NM_001875.4(CPS1):c.3141+15delA rs577707531
NM_001875.4(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001875.4(CPS1):c.3481-7G>A rs368909569
NM_001875.4(CPS1):c.3481-8C>T rs41272669
NM_001875.4(CPS1):c.3626T>C (p.Met1209Thr) rs200569046
NM_001875.4(CPS1):c.3928-19_3928-18delTT rs397703682
NM_001875.4(CPS1):c.3928-8delT rs397703682
NM_001875.4(CPS1):c.4101+2T>C rs767575696
NM_001875.4(CPS1):c.4196A>C (p.Asn1399Thr) rs121912594
NM_001875.4(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891
NM_001875.4(CPS1):c.4260C>G (p.Leu1420=) rs138395129
NM_001875.4(CPS1):c.4274+2T>C rs1374322297
NM_001875.4(CPS1):c.4275-10A>G rs41272673
NM_001875.4(CPS1):c.4404+4T>A rs199739254
NM_001875.4(CPS1):c.449G>A (p.Gly150Glu) rs114819130
NM_001875.4(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001875.4(CPS1):c.528+9A>G rs369476447
NM_001875.4(CPS1):c.529-4A>T rs191182348
NM_001875.4(CPS1):c.783C>T (p.Ile261=) rs142468138
NM_001875.4(CPS1):c.948-6C>T rs112199960

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