ClinVar Miner

List of variants in gene CPS1 reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_001875.5(CPS1):c.2192+6A>T rs201058019 0.00081
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser) rs148584272 0.00064
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln) rs147294932 0.00060
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013 0.00049
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn) rs141481633 0.00043
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr) rs150012540 0.00027
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086 0.00021
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr) rs139740322 0.00014
NM_001875.5(CPS1):c.121G>T (p.Val41Phe) rs148708735 0.00013
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr) rs201340295 0.00010
NM_001875.5(CPS1):c.1087-7C>T rs202117044 0.00009
NM_001875.5(CPS1):c.528+9A>G rs369476447 0.00008
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637 0.00006
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.2066G>A (p.Arg689His) rs201256385 0.00005
NM_001875.5(CPS1):c.3757-10A>C rs201251176 0.00004
NM_001875.5(CPS1):c.785C>T (p.Ala262Val) rs372217508 0.00004
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val) rs554763314 0.00003
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile) rs555151297 0.00003
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp) rs1248150090 0.00002
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala) rs755035266 0.00002
NM_001875.5(CPS1):c.2459T>C (p.Ile820Thr) rs763191148 0.00002
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala) rs747085519 0.00002
NM_001875.5(CPS1):c.1092T>G (p.Ile364Met) rs772077620 0.00001
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly) rs754023105 0.00001
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser) rs1419745583 0.00001
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser) rs1698690768 0.00001
NM_001875.5(CPS1):c.1708-5G>A rs571670790 0.00001
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln) rs200731808 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser) rs538878532 0.00001
NM_001875.5(CPS1):c.3303G>A (p.Val1101=) rs774531676 0.00001
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631 0.00001
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln) rs553145464 0.00001
NM_001875.5(CPS1):c.3552T>G (p.Asp1184Glu) rs769391518 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.390T>A (p.Gly130=) rs577598098 0.00001
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln) rs765106604 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp) rs770935194 0.00001
NM_001875.5(CPS1):c.655A>G (p.Lys219Glu) rs769324029 0.00001
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306 0.00001
NM_001875.5(CPS1):c.856C>T (p.Arg286Cys) rs202130487 0.00001
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg) rs149107897
NM_001875.5(CPS1):c.1299G>C (p.Leu433=) rs1698454990
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp) rs1255335680
NM_001875.5(CPS1):c.15G>C (p.Leu5Phe) rs1696924953
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu) rs1016767752
NM_001875.5(CPS1):c.1707+3A>G rs754232832
NM_001875.5(CPS1):c.1721T>G (p.Leu574Arg) rs1698750285
NM_001875.5(CPS1):c.1727C>A (p.Ala576Glu) rs1698750847
NM_001875.5(CPS1):c.1730C>T (p.Ala577Val) rs1559099882
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr) rs1698751783
NM_001875.5(CPS1):c.1776G>C (p.Leu592=) rs995238182
NM_001875.5(CPS1):c.1905A>T (p.Glu635Asp) rs1698862176
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr) rs1698865403
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala) rs1698926726
NM_001875.5(CPS1):c.2048C>G (p.Thr683Ser) rs753106342
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu) rs551261693
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys) rs1559102901
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2475C>T (p.Pro825=) rs751784059
NM_001875.5(CPS1):c.2568+10T>C rs1304867658
NM_001875.5(CPS1):c.2959+8_2959+14del rs765645129
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile) rs753784617
NM_001875.5(CPS1):c.593A>C (p.Gln198Pro) rs1376851408
NM_001875.5(CPS1):c.74C>T (p.Ala25Val) rs149570645
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala) rs778299777

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