ClinVar Miner

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

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_001875.5(CPS1):c.1263+5G>C rs1275489342 0.00001
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.3607T>C (p.Ser1203Pro) rs1319489001 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NC_000002.11:g.(?_211454820)_(211455640_?)dup
NM_001875.5(CPS1):c.1086+1G>A rs1553511326
NM_001875.5(CPS1):c.1164+1G>A
NM_001875.5(CPS1):c.1165-2A>G rs1305369403
NM_001875.5(CPS1):c.1264-1G>T
NM_001875.5(CPS1):c.127-2A>G
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.1360-1G>C
NM_001875.5(CPS1):c.1549+1G>A
NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)
NM_001875.5(CPS1):c.1836+2T>C rs1574577755
NM_001875.5(CPS1):c.1981+1G>C
NM_001875.5(CPS1):c.2375T>C (p.Met792Thr)
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile) rs1553513429
NM_001875.5(CPS1):c.2391+1G>T rs1553513433
NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)
NM_001875.5(CPS1):c.2568+1G>A
NM_001875.5(CPS1):c.2830-1G>C
NM_001875.5(CPS1):c.2830-1G>T rs1700129715
NM_001875.5(CPS1):c.2895+1G>A
NM_001875.5(CPS1):c.3141+2T>C rs2105901763
NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)
NM_001875.5(CPS1):c.3266G>C (p.Arg1089Pro)
NM_001875.5(CPS1):c.3336+1G>A rs1700437565
NM_001875.5(CPS1):c.3337-1G>T rs1700452978
NM_001875.5(CPS1):c.3405-2A>G rs2105910926
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys) rs146968493
NM_001875.5(CPS1):c.3559-2A>G rs766584384
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)
NM_001875.5(CPS1):c.3666+2del
NM_001875.5(CPS1):c.3683_3756+772del
NM_001875.5(CPS1):c.3757-1G>A rs2105922845
NM_001875.5(CPS1):c.381+2T>C rs1574543988
NM_001875.5(CPS1):c.4002+2T>A rs1553518395
NM_001875.5(CPS1):c.4003-2A>C
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del) rs766705843
NM_001875.5(CPS1):c.4161+1G>A
NM_001875.5(CPS1):c.4358G>A (p.Arg1453Gln) rs1559142152
NM_001875.5(CPS1):c.528+2T>C rs1574548003
NM_001875.5(CPS1):c.622-2A>G rs2106103778
NM_001875.5(CPS1):c.840+1G>T rs1206168005
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn) rs753751183

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