ClinVar Miner

List of variants in gene CPS1 reported as uncertain significance by Invitae

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Total variants: 23
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HGVS dbSNP
NM_001875.4(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.4(CPS1):c.1627G>A (p.Ala543Thr)
NM_001875.4(CPS1):c.1648T>C (p.Phe550Leu)
NM_001875.4(CPS1):c.2192+6A>T rs201058019
NM_001875.4(CPS1):c.236+5G>A rs1553509024
NM_001875.4(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.4(CPS1):c.2441G>A (p.Arg814Gln) rs200731808
NM_001875.4(CPS1):c.2845G>A (p.Ala949Thr) rs537170841
NM_001875.4(CPS1):c.2909A>G (p.Asn970Ser)
NM_001875.4(CPS1):c.2945G>T (p.Gly982Val) rs121912595
NM_001875.4(CPS1):c.303T>G (p.Ile101Met)
NM_001875.4(CPS1):c.3069C>G (p.Asp1023Glu)
NM_001875.4(CPS1):c.306_311dup (p.Gly104_Gly105insAsnGly) rs1288123680
NM_001875.4(CPS1):c.3464C>T (p.Ala1155Val) rs766125631
NM_001875.4(CPS1):c.3643A>G (p.Ile1215Val) rs141373204
NM_001875.4(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194
NM_001875.4(CPS1):c.4112G>A (p.Arg1371Gln)
NM_001875.4(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847
NM_001875.4(CPS1):c.4382T>A (p.Ile1461Asn)
NM_001875.4(CPS1):c.528G>A (p.Lys176=)
NM_001875.4(CPS1):c.586A>G (p.Asn196Asp)
NM_001875.4(CPS1):c.697C>T (p.Arg233Cys) rs767905306
NM_001875.4(CPS1):c.713G>A (p.Arg238Gln)

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