ClinVar Miner

List of variants in gene CPS1 studied for Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) rs138254425 0.00392
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013 0.00049
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr) rs201955205 0.00009
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr) rs142369181 0.00006
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr) rs537170841 0.00006
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp) rs367595060 0.00006
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907 0.00002
NM_001875.5(CPS1):c.1708-5G>A rs571670790 0.00001
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met) rs1294236456 0.00001
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr) rs754433289 0.00001
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303 0.00001
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270 0.00001
NM_001875.5(CPS1):c.4002G>A (p.Glu1334=) rs774434356 0.00001
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs) rs1553509010
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn) rs777363145
NM_001875.5(CPS1):c.3336+1G>A rs1700437565
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter) rs2105908864
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu) rs762494955

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