List of variants in gene CPS1 reported as likely pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_001875.5(CPS1):c.1263+5G>C	rs1275489342	0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)	rs1318756445	0.00001
NM_001875.5(CPS1):c.4274+2T>C	rs1374322297	0.00001
NM_001875.5(CPS1):c.1086+1G>A	rs1553511326
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)	rs961015305
NM_001875.5(CPS1):c.126+1G>A	rs1553507183
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)	rs1553511789
NM_001875.5(CPS1):c.1413dup (p.Asn472fs)	rs1553512225
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)	rs1553512642
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)	rs1341782266
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)	rs202107577
NM_001875.5(CPS1):c.2193-1G>T	rs1553513387
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer)	rs781088670
NM_001875.5(CPS1):c.236+1G>T	rs1553509023
NM_001875.5(CPS1):c.2391+1G>A	rs1553513433
NM_001875.5(CPS1):c.2392-1G>T	rs755882799
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg)	rs1553513864
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)	rs1553507167
NM_001875.5(CPS1):c.301del (p.Ile101fs)	rs1553509303
NM_001875.5(CPS1):c.3141+1G>A	rs1553516660
NM_001875.5(CPS1):c.3185del (p.Asn1062fs)	rs1553517122
NM_001875.5(CPS1):c.3375del (p.Cys1126fs)	rs1553517224
NM_001875.5(CPS1):c.3558_3558+1dup	rs1553517670
NM_001875.5(CPS1):c.3559-2A>G	rs766584384
NM_001875.5(CPS1):c.3G>T (p.Met1Ile)	rs1553507155
NM_001875.5(CPS1):c.4002+2T>A	rs1553518395
NM_001875.5(CPS1):c.4003-1G>C	rs1553518720
NM_001875.5(CPS1):c.4003-2A>T	rs1553518719
NM_001875.5(CPS1):c.4056del (p.Thr1353fs)	rs1553518726
NM_001875.5(CPS1):c.4101+2T>C	rs767575696
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)	rs1553509924
NM_001875.5(CPS1):c.711+1G>C	rs1553510520
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)	rs761225695
NM_001875.5(CPS1):c.763G>T (p.Glu255Ter)	rs756021170
NM_001875.5(CPS1):c.798del (p.Asn267fs)	rs1553510944

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