ClinVar Miner

Variants in gene CPS1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592 0.00001
NM_001875.5(CPS1):c.1926del (p.Asp642fs) rs1326644714 0.00001
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter) rs1251623714 0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter) rs961015305
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter) rs1553511789
NM_001875.5(CPS1):c.1760G>A (p.Arg587His) rs1553512642
NM_001875.5(CPS1):c.1775dup (p.Gly594fs) rs1341782266
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter) rs1337182136
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg) rs1553513864
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter) rs1553507167
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup) rs1288123680
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs) rs1700454068
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter) rs1700523651
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr) rs1553518389
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4404+3A>G
NM_001875.5(CPS1):c.594_595del (p.Asn199fs) rs1553509924
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter) rs761225695
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer) rs778346264
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn) rs753751183

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