ClinVar Miner

List of variants in gene CPS1 reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_001875.5(CPS1):c.1029C>T (p.Asn343=) rs747138655
NM_001875.5(CPS1):c.1087-7C>T rs202117044
NM_001875.5(CPS1):c.1227C>A (p.Val409=) rs1394034733
NM_001875.5(CPS1):c.1282C>T (p.Leu428=) rs1574567820
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667
NM_001875.5(CPS1):c.1632G>A (p.Thr544=) rs755530984
NM_001875.5(CPS1):c.1782G>T (p.Gly594=) rs200968000
NM_001875.5(CPS1):c.1827C>T (p.Leu609=) rs1574577723
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu) rs551261693
NM_001875.5(CPS1):c.2161C>A (p.Arg721=) rs202107577
NM_001875.5(CPS1):c.228C>G (p.Gly76=) rs1450875442
NM_001875.5(CPS1):c.2316G>A (p.Lys772=) rs1574586633
NM_001875.5(CPS1):c.234A>G (p.Gly78=) rs182678639
NM_001875.5(CPS1):c.2392-9G>A rs374695266
NM_001875.5(CPS1):c.2475C>T (p.Pro825=) rs751784059
NM_001875.5(CPS1):c.2544C>T (p.Ser848=) rs142818109
NM_001875.5(CPS1):c.2568+8G>A rs765027224
NM_001875.5(CPS1):c.2568+9T>C rs752578602
NM_001875.5(CPS1):c.2601T>C (p.Ile867=) rs375325824
NM_001875.5(CPS1):c.2727G>A (p.Glu909=) rs1373561767
NM_001875.5(CPS1):c.2733G>A (p.Gly911=) rs571189660
NM_001875.5(CPS1):c.2771C>G (p.Thr924Ser) rs150463750
NM_001875.5(CPS1):c.2829+8A>G rs941366546
NM_001875.5(CPS1):c.2959+8_2959+14del rs765645129
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786
NM_001875.5(CPS1):c.3216T>C (p.Gly1072=) rs1574638509
NM_001875.5(CPS1):c.3303G>A (p.Val1101=) rs774531676
NM_001875.5(CPS1):c.3336+7A>G rs1574638794
NM_001875.5(CPS1):c.334C>T (p.Leu112=) rs149675371
NM_001875.5(CPS1):c.3465G>A (p.Ala1155=) rs772806744
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.3723C>T (p.Asn1241=) rs760598756
NM_001875.5(CPS1):c.3757-10A>C rs201251176
NM_001875.5(CPS1):c.3757-7T>C rs1574654116
NM_001875.5(CPS1):c.381+9A>G rs1447837168
NM_001875.5(CPS1):c.390T>A (p.Gly130=) rs577598098
NM_001875.5(CPS1):c.3921A>G (p.Ala1307=) rs780550238
NM_001875.5(CPS1):c.39A>C (p.Thr13=) rs755098080
NM_001875.5(CPS1):c.4068G>A (p.Lys1356=) rs1425920194
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=) rs368890059
NM_001875.5(CPS1):c.4488T>C (p.Ala1496=) rs141982972
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130
NM_001875.5(CPS1):c.487G>A (p.Gly163Arg) rs200214298
NM_001875.5(CPS1):c.528+9A>G rs369476447
NM_001875.5(CPS1):c.636C>T (p.Tyr212=) rs138724401
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504
NM_001875.5(CPS1):c.705A>G (p.Leu235=) rs1574558005
NM_001875.5(CPS1):c.711+7A>C rs756703955
NM_001875.5(CPS1):c.867A>G (p.Pro289=) rs1441290967
NM_001875.5(CPS1):c.942C>A (p.Ala314=) rs774427324

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