ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_001122633.3(CPS1):c.-17T>G rs763703546
NM_001875.5(CPS1):c.-3delinsTTCC rs1553507151
NM_001875.5(CPS1):c.1025_1027ACA[1] (p.Asn343del) rs1553511264
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg) rs760895692
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr) rs772497399
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr) rs1553511794
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318
NM_001875.5(CPS1):c.1837-8A>G rs1290474919
NM_001875.5(CPS1):c.1864G>A (p.Val622Met) rs1553512962
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg) rs1553512974
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu) rs1553513861
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.2446T>C (p.Cys816Arg) rs1553513870
NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu) rs1486364626
NM_001875.5(CPS1):c.2579_2581ACA[1] (p.Asn861del) rs763006780
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser) rs1553509297
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu) rs1388955593
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu) rs754706559
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn) rs760714614
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser) rs757059355
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr) rs1553516442
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser) rs749238466
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu) rs770471782
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys) rs1553517387
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val) rs769593170
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu) rs1202306773
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His) rs1553519513
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu) rs762494955
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp) rs1553509661
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306
NM_001875.5(CPS1):c.840_840+5dup rs1273243029
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu) rs973321068

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.