ClinVar Miner

List of variants in gene CPS1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_001875.5(CPS1):c.712-16T>C rs187304632 0.00456
NM_001875.5(CPS1):c.3481-8C>T rs41272669 0.00424
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023 0.00412
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023 0.00295
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255 0.00230
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_001875.5(CPS1):c.1437G>A (p.Ala479=) rs80261173 0.00114
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650 0.00058
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073 0.00054
NM_001875.5(CPS1):c.948-6C>T rs112199960 0.00052
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013 0.00049
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728 0.00017
NM_001875.5(CPS1):c.1632G>A (p.Thr544=) rs755530984 0.00005
NM_001875.5(CPS1):c.158G>C (p.Gly53Ala) rs140092912 0.00001
NM_001875.5(CPS1):c.2205A>G (p.Ala735=) rs749436827 0.00001
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu) rs770471782 0.00001
NM_001875.5(CPS1):c.3204A>G (p.Leu1068=) rs766909251 0.00001
NM_001875.5(CPS1):c.726G>A (p.Val242=) rs765377334 0.00001
GRCh37/hg19 2q34(chr2:211421441-211473283)x1
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2358C>T (p.Ser786=) rs1699003909
NM_001875.5(CPS1):c.3015A>G (p.Gln1005=)
NM_001875.5(CPS1):c.3133C>T (p.His1045Tyr) rs1222081568
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3250G>C (p.Asp1084His) rs777363145
NM_001875.5(CPS1):c.3373C>A (p.Pro1125Thr)
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3928-4A>G

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