ClinVar Miner

List of variants in gene CPS1 reported by Invitae

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Gene type:
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Total variants: 62
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HGVS dbSNP
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.104G>A (p.Gly35Asp)
NM_001875.5(CPS1):c.1165-5T>C rs565003226
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1437G>A (p.Ala479=) rs80261173
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp)
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu)
NM_001875.5(CPS1):c.1693T>A (p.Phe565Ile)
NM_001875.5(CPS1):c.1836+2T>C
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.1926del (p.Asp642fs) rs1326644714
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2192+6A>T rs201058019
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.236+5G>A rs1553509024
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile) rs1553513429
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2421G>A (p.Glu807=) rs140726293
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln) rs200731808
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645
NM_001875.5(CPS1):c.2549G>A (p.Arg850His)
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn)
NM_001875.5(CPS1):c.2596G>T (p.Glu866Ter)
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr) rs537170841
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.303T>G (p.Ile101Met) rs1559084624
NM_001875.5(CPS1):c.3069C>G (p.Asp1023Glu) rs1559123272
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup) rs1288123680
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631
NM_001875.5(CPS1):c.3481-7G>A rs368909569
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.3683G>A (p.Arg1228Gln) rs778117194
NM_001875.5(CPS1):c.3723C>T (p.Asn1241=) rs760598756
NM_001875.5(CPS1):c.381+2T>C
NM_001875.5(CPS1):c.4068G>A (p.Lys1356=) rs1425920194
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847
NM_001875.5(CPS1):c.4274+2T>C rs1374322297
NM_001875.5(CPS1):c.4275-10A>G rs41272673
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn) rs1559142189
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001875.5(CPS1):c.528+2T>C
NM_001875.5(CPS1):c.528G>A (p.Lys176=) rs1559086441
NM_001875.5(CPS1):c.529-4A>T rs191182348
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp)
NM_001875.5(CPS1):c.622-3C>T
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)

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