ClinVar Miner

List of variants in gene CPS1 reported as likely benign for not provided

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Gene type:
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Total variants: 29
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HGVS dbSNP
NM_001875.5(CPS1):c.1200A>G (p.Lys400=) rs141545954
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) rs138254425
NM_001875.5(CPS1):c.1282C>T (p.Leu428=) rs1574567820
NM_001875.5(CPS1):c.1416T>C (p.Asn472=) rs148204462
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.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.2568+8G>A rs765027224
NM_001875.5(CPS1):c.2568+9T>C rs752578602
NM_001875.5(CPS1):c.2727G>A (p.Glu909=) rs1373561767
NM_001875.5(CPS1):c.2829+8A>G rs941366546
NM_001875.5(CPS1):c.2960-166A>G rs114814055
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3303G>A (p.Val1101=) rs774531676
NM_001875.5(CPS1):c.3336+7A>G rs1574638794
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023
NM_001875.5(CPS1):c.3757-7T>C rs1574654116
NM_001875.5(CPS1):c.3928-17T>G rs532757361
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.4404+5A>T rs375785288
NM_001875.5(CPS1):c.4488T>C (p.Ala1496=) rs141982972
NM_001875.5(CPS1):c.622-78T>C rs116468978
NM_001875.5(CPS1):c.705A>G (p.Leu235=) rs1574558005
NM_001875.5(CPS1):c.867A>G (p.Pro289=) rs1441290967

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