ClinVar Miner

List of variants reported as uncertain significance for Congenital hyperammonemia, type I

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 390
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667 0.00154
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_001875.5(CPS1):c.*274G>A rs528584074 0.00130
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
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.*187C>T rs543723956 0.00079
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171 0.00065
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser) rs148584272 0.00064
NM_001875.5(CPS1):c.*427C>T rs111328810 0.00062
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln) rs147294932 0.00060
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650 0.00058
NM_001875.5(CPS1):c.948-6C>T rs112199960 0.00052
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.4089G>T (p.Leu1363=) rs368890059 0.00040
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser) rs142693704 0.00035
NM_001875.5(CPS1):c.1116C>T (p.Phe372=) rs200465544 0.00029
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr) rs150012540 0.00027
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976 0.00026
NM_001875.5(CPS1):c.234A>G (p.Gly78=) rs182678639 0.00021
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086 0.00021
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046 0.00018
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728 0.00017
NM_001875.5(CPS1):c.*976C>T rs763063376 0.00016
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.*1087T>C rs760593059 0.00012
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556 0.00010
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr) rs201340295 0.00010
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu) rs373841124 0.00010
NM_001875.5(CPS1):c.1087-7C>T rs202117044 0.00009
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr) rs201955205 0.00009
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr) rs140999077 0.00009
NM_001875.5(CPS1):c.528+9A>G rs369476447 0.00008
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
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.4173G>A (p.Thr1391=) rs201710257 0.00006
NM_001875.5(CPS1):c.*848G>A rs142796725 0.00005
NM_001875.5(CPS1):c.2066G>A (p.Arg689His) rs201256385 0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786 0.00005
NM_001875.5(CPS1):c.3538G>A (p.Ala1180Thr) rs776047286 0.00005
NM_001875.5(CPS1):c.-4C>A rs768210605 0.00004
NM_001875.5(CPS1):c.2786G>A (p.Arg929Lys) rs748045437 0.00004
NM_001875.5(CPS1):c.3757-10A>C rs201251176 0.00004
NM_001875.5(CPS1):c.4404+5A>T rs375785288 0.00004
NM_001875.5(CPS1):c.712-11C>T rs561995236 0.00004
NM_001875.5(CPS1):c.785C>T (p.Ala262Val) rs372217508 0.00004
NM_001875.5(CPS1):c.*235A>T rs6728169 0.00003
NM_001875.5(CPS1):c.*808G>T rs943762320 0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val) rs554763314 0.00003
NM_001875.5(CPS1):c.2815C>T (p.Pro939Ser) rs1047579926 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile) rs555151297 0.00003
NM_001875.5(CPS1):c.3724G>A (p.Val1242Ile) rs766236739 0.00003
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg) rs760895692 0.00002
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp) rs139818667 0.00002
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp) rs1248150090 0.00002
NM_001875.5(CPS1):c.2026G>A (p.Glu676Lys) rs753441052 0.00002
NM_001875.5(CPS1):c.2044C>T (p.Arg682Cys) rs754653479 0.00002
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala) rs755035266 0.00002
NM_001875.5(CPS1):c.2257G>A (p.Val753Ile) rs1272423772 0.00002
NM_001875.5(CPS1):c.2459T>C (p.Ile820Thr) rs763191148 0.00002
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser) rs750006303 0.00002
NM_001875.5(CPS1):c.302T>C (p.Ile101Thr) rs186877621 0.00002
NM_001875.5(CPS1):c.3395A>G (p.Tyr1132Cys) rs764150301 0.00002
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly) rs748968097 0.00002
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala) rs747085519 0.00002
NM_001875.5(CPS1):c.*1117A>G rs886055564 0.00001
NM_001875.5(CPS1):c.*424A>C rs1414802360 0.00001
NM_001875.5(CPS1):c.*739T>G rs886055560 0.00001
NM_001875.5(CPS1):c.*913G>T rs541817831 0.00001
NM_001875.5(CPS1):c.-76A>G rs372753413 0.00001
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp) rs1472190012 0.00001
NM_001875.5(CPS1):c.1070A>G (p.Asn357Ser) rs761817028 0.00001
NM_001875.5(CPS1):c.1092T>G (p.Ile364Met) rs772077620 0.00001
NM_001875.5(CPS1):c.112C>T (p.Leu38Phe) rs749164722 0.00001
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly) rs754023105 0.00001
NM_001875.5(CPS1):c.1359+4A>G rs916389428 0.00001
NM_001875.5(CPS1):c.1400C>T (p.Ala467Val) rs746395584 0.00001
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser) rs1419745583 0.00001
NM_001875.5(CPS1):c.155A>G (p.Asp52Gly) rs779756731 0.00001
NM_001875.5(CPS1):c.1582G>C (p.Glu528Gln) rs763466112 0.00001
NM_001875.5(CPS1):c.158G>C (p.Gly53Ala) rs140092912 0.00001
NM_001875.5(CPS1):c.1638C>A (p.Asp546Glu) rs1326614424 0.00001
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser) rs1698690768 0.00001
NM_001875.5(CPS1):c.1693T>A (p.Phe565Ile) rs773713162 0.00001
NM_001875.5(CPS1):c.1708-5G>A rs571670790 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.2308G>A (p.Val770Ile) rs1237628982 0.00001
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln) rs200731808 0.00001
NM_001875.5(CPS1):c.2454A>G (p.Pro818=) rs765712117 0.00001
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser) rs1553509297 0.00001
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu) rs1388955593 0.00001
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu) rs754706559 0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn) rs760714614 0.00001
NM_001875.5(CPS1):c.2860G>T (p.Val954Leu) rs756163174 0.00001
NM_001875.5(CPS1):c.286A>G (p.Met96Val) rs1432483864 0.00001
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser) rs757059355 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr) rs1553516442 0.00001
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser) rs749238466 0.00001
NM_001875.5(CPS1):c.3127A>G (p.Ile1043Val) rs200237771 0.00001
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met) rs1294236456 0.00001
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=) rs369030433 0.00001
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu) rs770471782 0.00001
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser) rs538878532 0.00001
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=) rs749825961 0.00001
NM_001875.5(CPS1):c.3292G>A (p.Glu1098Lys) rs768579926 0.00001
NM_001875.5(CPS1):c.3303G>A (p.Val1101=) rs774531676 0.00001
NM_001875.5(CPS1):c.3336+4A>G rs776401808 0.00001
NM_001875.5(CPS1):c.3368A>T (p.Asp1123Val) rs1391357751 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.3558+7G>A rs764456030 0.00001
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly) rs1276176761 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270 0.00001
NM_001875.5(CPS1):c.390T>A (p.Gly130=) rs577598098 0.00001
NM_001875.5(CPS1):c.4002G>A (p.Glu1334=) rs774434356 0.00001
NM_001875.5(CPS1):c.4003-3C>A rs779886770 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.4198G>A (p.Ala1400Thr) rs779382562 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001875.5(CPS1):c.4303G>A (p.Val1435Met) rs778325183 0.00001
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser) rs868808195 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.8G>T (p.Arg3Met) rs750705469 0.00001
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu) rs973321068 0.00001
NM_001875.5(CPS1):c.937A>G (p.Met313Val) rs587780323 0.00001
NM_001875.5(CPS1):c.994A>T (p.Ile332Phe) rs1394302181 0.00001
NC_000002.11:g.(?_211421458)_(211542709_?)dup
NC_000002.11:g.(?_211503854)_(211503959_?)del
NC_000002.12:g.(?_210658579)_(210678005_?)del
NM_001122633.3(CPS1):c.-17T>G rs763703546
NM_001875.5(CPS1):c.*1040C>T rs886055562
NM_001875.5(CPS1):c.*1068G>T rs886055563
NM_001875.5(CPS1):c.*311A>G rs886055558
NM_001875.5(CPS1):c.*387C>T rs886055559
NM_001875.5(CPS1):c.*5G>A rs886055556
NM_001875.5(CPS1):c.*747A>G rs1701612032
NM_001875.5(CPS1):c.*74T>C rs886055557
NM_001875.5(CPS1):c.*777A>G rs886055561
NM_001875.5(CPS1):c.-3delinsTTCC rs1553507151
NM_001875.5(CPS1):c.1000G>A (p.Ala334Thr) rs2106111068
NM_001875.5(CPS1):c.1013G>A (p.Gly338Asp)
NM_001875.5(CPS1):c.1016A>G (p.Tyr339Cys)
NM_001875.5(CPS1):c.1018G>A (p.Ala340Thr)
NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del) rs1553511264
NM_001875.5(CPS1):c.1031C>G (p.Thr344Ser) rs113394579
NM_001875.5(CPS1):c.104G>A (p.Gly35Asp) rs1574520391
NM_001875.5(CPS1):c.1100A>C (p.Glu367Ala)
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg) rs149107897
NM_001875.5(CPS1):c.1139T>C (p.Val380Ala) rs2106113219
NM_001875.5(CPS1):c.1142C>A (p.Thr381Asn)
NM_001875.5(CPS1):c.1150C>A (p.Pro384Thr) rs2106113248
NM_001875.5(CPS1):c.1164+3A>G
NM_001875.5(CPS1):c.1164+5G>A
NM_001875.5(CPS1):c.1165-12A>G rs1574566498
NM_001875.5(CPS1):c.1196A>G (p.Lys399Arg)
NM_001875.5(CPS1):c.1199A>C (p.Lys400Thr)
NM_001875.5(CPS1):c.1264-3T>C
NM_001875.5(CPS1):c.1294G>A (p.Gly432Ser)
NM_001875.5(CPS1):c.1295G>A (p.Gly432Asp)
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.1312G>A (p.Ala438Thr) rs772497399
NM_001875.5(CPS1):c.1315G>A (p.Gly439Arg) rs2106118268
NM_001875.5(CPS1):c.1328A>C (p.Tyr443Ser)
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr) rs1553511794
NM_001875.5(CPS1):c.1378G>C (p.Val460Leu)
NM_001875.5(CPS1):c.1400C>A (p.Ala467Glu)
NM_001875.5(CPS1):c.1436C>T (p.Ala479Val)
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp) rs1255335680
NM_001875.5(CPS1):c.1523T>C (p.Met508Thr)
NM_001875.5(CPS1):c.1561T>C (p.Phe521Leu) rs1698684090
NM_001875.5(CPS1):c.1562T>G (p.Phe521Cys) rs2105840290
NM_001875.5(CPS1):c.1584A>T (p.Glu528Asp)
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.1670T>C (p.Ile557Thr)
NM_001875.5(CPS1):c.1692T>A (p.Ser564Arg)
NM_001875.5(CPS1):c.1706C>T (p.Ser569Leu)
NM_001875.5(CPS1):c.1707+3A>G rs754232832
NM_001875.5(CPS1):c.1707G>A (p.Ser569=)
NM_001875.5(CPS1):c.1708-7T>A
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.1747C>T (p.Pro583Ser)
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.1846A>G (p.Met616Val)
NM_001875.5(CPS1):c.1862T>C (p.Leu621Pro) rs2105847240
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.1905A>T (p.Glu635Asp) rs1698862176
NM_001875.5(CPS1):c.1910T>C (p.Val637Ala)
NM_001875.5(CPS1):c.1913G>A (p.Arg638Gln)
NM_001875.5(CPS1):c.1937C>G (p.Thr646Ser)
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr) rs1698865403
NM_001875.5(CPS1):c.194C>T (p.Ser65Phe)
NM_001875.5(CPS1):c.1970G>A (p.Gly657Asp)
NM_001875.5(CPS1):c.1982-1G>C rs1559102636
NM_001875.5(CPS1):c.1982-8A>T rs563304664
NM_001875.5(CPS1):c.1982G>A (p.Gly661Asp) rs2105849848
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala) rs1698926726
NM_001875.5(CPS1):c.2022T>A (p.Asn674Lys)
NM_001875.5(CPS1):c.2033A>G (p.Gln678Arg)
NM_001875.5(CPS1):c.2048C>G (p.Thr683Ser) rs753106342
NM_001875.5(CPS1):c.2083G>A (p.Gly695Ser)
NM_001875.5(CPS1):c.2131T>C (p.Cys711Arg) rs1244823608
NM_001875.5(CPS1):c.2134A>G (p.Ile712Val)
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.2186C>T (p.Ala729Val) rs1698935242
NM_001875.5(CPS1):c.2192G>A (p.Gly731Asp)
NM_001875.5(CPS1):c.2200T>A (p.Leu734Met) rs1297131870
NM_001875.5(CPS1):c.221A>G (p.Asn74Ser)
NM_001875.5(CPS1):c.2233A>C (p.Ile745Leu)
NM_001875.5(CPS1):c.2260G>A (p.Val754Ile)
NM_001875.5(CPS1):c.2266G>A (p.Gly756Arg)
NM_001875.5(CPS1):c.2324G>A (p.Arg775His) rs766970243
NM_001875.5(CPS1):c.236+5G>A rs1553509024
NM_001875.5(CPS1):c.2381G>T (p.Ser794Ile) rs1247456569
NM_001875.5(CPS1):c.2391G>T (p.Glu797Asp) rs1181945940
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.2453C>T (p.Pro818Leu)
NM_001875.5(CPS1):c.2474C>T (p.Pro825Leu) rs1376614988
NM_001875.5(CPS1):c.2475C>T (p.Pro825=) rs751784059
NM_001875.5(CPS1):c.2485A>G (p.Met829Val)
NM_001875.5(CPS1):c.2515C>T (p.Leu839Phe)
NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu) rs1486364626
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn) rs770250368
NM_001875.5(CPS1):c.2568+10T>C rs1304867658
NM_001875.5(CPS1):c.2573T>C (p.Ile858Thr)
NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del) rs763006780
NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)
NM_001875.5(CPS1):c.2659A>G (p.Met887Val)
NM_001875.5(CPS1):c.2659A>T (p.Met887Leu) rs1699312076
NM_001875.5(CPS1):c.2688-12A>G rs376699772
NM_001875.5(CPS1):c.2693C>A (p.Ser898Tyr) rs1700079203
NM_001875.5(CPS1):c.2720C>A (p.Ala907Glu) rs1700081346
NM_001875.5(CPS1):c.2749A>G (p.Ile917Val) rs886055552
NM_001875.5(CPS1):c.2764G>A (p.Gly922Arg)
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile) rs150463750
NM_001875.5(CPS1):c.281T>G (p.Leu94Arg) rs1697713175
NM_001875.5(CPS1):c.2829+6G>A
NM_001875.5(CPS1):c.2884T>C (p.Tyr962His) rs1700131234
NM_001875.5(CPS1):c.2896-3del
NM_001875.5(CPS1):c.2932G>T (p.Val978Leu) rs779342929
NM_001875.5(CPS1):c.2959+1del rs1559121934
NM_001875.5(CPS1):c.2959+5A>G rs745778375
NM_001875.5(CPS1):c.2959+8_2959+14del rs765645129
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
NM_001875.5(CPS1):c.2982G>C (p.Trp994Cys) rs1700257191
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.3010C>T (p.Arg1004Cys)
NM_001875.5(CPS1):c.301A>G (p.Ile101Val)
NM_001875.5(CPS1):c.303T>G (p.Ile101Met) rs1559084624
NM_001875.5(CPS1):c.3062G>A (p.Ser1021Asn) rs2105901649
NM_001875.5(CPS1):c.3069C>G (p.Asp1023Glu) rs1559123272
NM_001875.5(CPS1):c.3112G>C (p.Glu1038Gln) rs1700263629
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3151G>A (p.Gly1051Ser) rs2105907837
NM_001875.5(CPS1):c.3173G>C (p.Gly1058Ala) rs1700429133
NM_001875.5(CPS1):c.317C>T (p.Ala106Val) rs765026487
NM_001875.5(CPS1):c.319C>T (p.Pro107Ser)
NM_001875.5(CPS1):c.3230G>A (p.Gly1077Asp)
NM_001875.5(CPS1):c.3237C>G (p.Ser1079Arg) rs889511224
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn) rs777363145
NM_001875.5(CPS1):c.3262G>A (p.Asp1088Asn)
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser) rs761921978
NM_001875.5(CPS1):c.3316T>C (p.Trp1106Arg) rs1653256261
NM_001875.5(CPS1):c.3335T>C (p.Leu1112Ser)
NM_001875.5(CPS1):c.3336+5G>A
NM_001875.5(CPS1):c.3336G>A (p.Leu1112=) rs772400341
NM_001875.5(CPS1):c.3428T>C (p.Phe1143Ser) rs1700522933
NM_001875.5(CPS1):c.3439G>A (p.Glu1147Lys) rs1414071158
NM_001875.5(CPS1):c.3442A>T (p.Met1148Leu)
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys) rs1553517387
NM_001875.5(CPS1):c.347G>A (p.Gly116Glu)
NM_001875.5(CPS1):c.3480+5T>C rs1700524730
NM_001875.5(CPS1):c.3481-7G>C rs368909569
NM_001875.5(CPS1):c.349C>T (p.Leu117Phe) rs2106079743
NM_001875.5(CPS1):c.3500C>A (p.Thr1167Lys)
NM_001875.5(CPS1):c.3503A>T (p.Lys1168Ile)
NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln)
NM_001875.5(CPS1):c.3558+8C>T rs1700638481
NM_001875.5(CPS1):c.3568C>T (p.His1190Tyr)
NM_001875.5(CPS1):c.3596C>A (p.Ala1199Glu) rs751372173
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu) rs149518280
NM_001875.5(CPS1):c.3623T>A (p.Leu1208Gln) rs2105917916
NM_001875.5(CPS1):c.3666+4A>G
NM_001875.5(CPS1):c.3666+6_3666+8del rs1219499475
NM_001875.5(CPS1):c.3688A>G (p.Ile1230Val) rs1700803697
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile) rs753784617
NM_001875.5(CPS1):c.3742G>A (p.Gly1248Arg)
NM_001875.5(CPS1):c.3756+3A>G rs777990487
NM_001875.5(CPS1):c.3812T>C (p.Leu1271Pro)
NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val) rs886055554
NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr) rs886055555
NM_001875.5(CPS1):c.3927+5C>A
NM_001875.5(CPS1):c.3934A>C (p.Met1312Leu)
NM_001875.5(CPS1):c.3941C>T (p.Ser1314Phe)
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val) rs769593170
NM_001875.5(CPS1):c.4018G>A (p.Glu1340Lys) rs2105933010
NM_001875.5(CPS1):c.4034C>G (p.Ala1345Gly) rs1701168860
NM_001875.5(CPS1):c.4046C>G (p.Ala1349Gly) rs1701169191
NM_001875.5(CPS1):c.407A>G (p.Tyr136Cys)
NM_001875.5(CPS1):c.4090A>G (p.Ile1364Val)
NM_001875.5(CPS1):c.4094G>A (p.Gly1365Asp) rs1701172255
NM_001875.5(CPS1):c.4101G>A (p.Gln1367=)
NM_001875.5(CPS1):c.4102-1G>C
NM_001875.5(CPS1):c.4106C>T (p.Ser1369Leu)
NM_001875.5(CPS1):c.4109T>C (p.Phe1370Ser)
NM_001875.5(CPS1):c.410G>T (p.Ser137Ile) rs2106081662
NM_001875.5(CPS1):c.411T>A (p.Ser137Arg)
NM_001875.5(CPS1):c.412A>C (p.Lys138Gln)
NM_001875.5(CPS1):c.4161G>A (p.Lys1387=)
NM_001875.5(CPS1):c.4162-3C>T
NM_001875.5(CPS1):c.4220C>T (p.Pro1407Leu)
NM_001875.5(CPS1):c.422A>G (p.Asn141Ser)
NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser)
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu) rs1202306773
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
NM_001875.5(CPS1):c.4252C>G (p.Pro1418Ala)
NM_001875.5(CPS1):c.4283G>C (p.Arg1428Thr)
NM_001875.5(CPS1):c.4325A>G (p.Asn1442Ser)
NM_001875.5(CPS1):c.4364C>T (p.Thr1455Ile)
NM_001875.5(CPS1):c.4373A>T (p.Asp1458Val) rs1701560653
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn) rs1559142189
NM_001875.5(CPS1):c.4388T>C (p.Leu1463Pro)
NM_001875.5(CPS1):c.4401T>G (p.Phe1467Leu) rs2105946163
NM_001875.5(CPS1):c.4412A>T (p.Lys1471Ile) rs762221038
NM_001875.5(CPS1):c.442A>G (p.Ser148Gly)
NM_001875.5(CPS1):c.442A>T (p.Ser148Cys)
NM_001875.5(CPS1):c.4441C>T (p.Arg1481Cys)
NM_001875.5(CPS1):c.4442G>C (p.Arg1481Pro)
NM_001875.5(CPS1):c.4457A>G (p.Lys1486Arg)
NM_001875.5(CPS1):c.4463T>C (p.Leu1488Pro)
NM_001875.5(CPS1):c.4469A>G (p.His1490Arg) rs2105947140
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His) rs1553519513
NM_001875.5(CPS1):c.4478A>C (p.Gln1493Pro) rs2105947164
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu) rs762494955
NM_001875.5(CPS1):c.504G>T (p.Met168Ile) rs1194500413
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp) rs1553509661
NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)
NM_001875.5(CPS1):c.528G>A (p.Lys176=) rs1559086441
NM_001875.5(CPS1):c.549T>G (p.Ile183Met)
NM_001875.5(CPS1):c.563A>G (p.Gln188Arg)
NM_001875.5(CPS1):c.593A>C (p.Gln198Pro) rs1376851408
NM_001875.5(CPS1):c.616A>T (p.Thr206Ser)
NM_001875.5(CPS1):c.622-3C>T rs1574557868
NM_001875.5(CPS1):c.677G>T (p.Gly226Val) rs2106103911
NM_001875.5(CPS1):c.737C>T (p.Pro246Leu) rs2106107599
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
NM_001875.5(CPS1):c.74C>T (p.Ala25Val) rs149570645
NM_001875.5(CPS1):c.762G>A (p.Met254Ile)
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala) rs778299777
NM_001875.5(CPS1):c.793C>A (p.Pro265Thr) rs2106107745
NM_001875.5(CPS1):c.840+6A>G rs1477495553
NM_001875.5(CPS1):c.840_840+5dup rs1273243029
NM_001875.5(CPS1):c.891C>A (p.Asn297Lys) rs1698268978
NM_001875.5(CPS1):c.895A>G (p.Ile299Val) rs2106108999
NM_001875.5(CPS1):c.914G>T (p.Gly305Val)
NM_001875.5(CPS1):c.945C>G (p.Asn315Lys) rs761974037
NM_001875.5(CPS1):c.952C>A (p.Gln318Lys)
NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)

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.