ClinVar Miner

Variants in gene CPS1 with conflicting interpretations

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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
344 37 0 17 19 0 6 39

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 3 2 0 0
likely pathogenic 3 0 5 0 0
uncertain significance 2 5 0 13 6
likely benign 0 0 13 0 14
benign 0 0 6 14 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589
NM_001875.5(CPS1):c.1087-7C>T rs202117044
NM_001875.5(CPS1):c.1116C>T (p.Phe372=) rs200465544
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976
NM_001875.5(CPS1):c.1632G>A (p.Thr544=) rs755530984
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.234A>G (p.Gly78=) rs182678639
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser) rs201246466
NM_001875.5(CPS1):c.3481-8C>T rs41272669
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=) rs368890059
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891
NM_001875.5(CPS1):c.4274+2T>C rs1374322297
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001875.5(CPS1):c.528+9A>G rs369476447
NM_001875.5(CPS1):c.529-4A>T rs191182348
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138
NM_001875.5(CPS1):c.948-6C>T rs112199960

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