ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln) rs147294932 0.00060
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr) rs140999077 0.00009
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.3538G>A (p.Ala1180Thr) rs776047286 0.00005
NM_001875.5(CPS1):c.2786G>A (p.Arg929Lys) rs748045437 0.00004
NM_001875.5(CPS1):c.4404+5A>T rs375785288 0.00004
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val) rs554763314 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.3395A>G (p.Tyr1132Cys) rs764150301 0.00002
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly) rs748968097 0.00002
NM_001875.5(CPS1):c.1070A>G (p.Asn357Ser) rs761817028 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.2308G>A (p.Val770Ile) rs1237628982 0.00001
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln) rs200731808 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.3129C>G (p.Ile1043Met) rs1294236456 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.3292G>A (p.Glu1098Lys) rs768579926 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.3662A>G (p.Glu1221Gly) rs1276176761 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.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.4198G>A (p.Ala1400Thr) rs779382562 0.00001
NM_001875.5(CPS1):c.4303G>A (p.Val1435Met) rs778325183 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.856C>T (p.Arg286Cys) rs202130487 0.00001
NM_001875.5(CPS1):c.8G>T (p.Arg3Met) rs750705469 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_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.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.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.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.1295G>A (p.Gly432Asp)
NM_001875.5(CPS1):c.1315G>A (p.Gly439Arg) rs2106118268
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.1561T>C (p.Phe521Leu) rs1698684090
NM_001875.5(CPS1):c.1562T>G (p.Phe521Cys) rs2105840290
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.1707G>A (p.Ser569=)
NM_001875.5(CPS1):c.1708-7T>A
NM_001875.5(CPS1):c.1747C>T (p.Pro583Ser)
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr) rs1698751783
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.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.1982G>A (p.Gly661Asp) rs2105849848
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala) rs1698926726
NM_001875.5(CPS1):c.2033A>G (p.Gln678Arg)
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.2192G>A (p.Gly731Asp)
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.2485A>G (p.Met829Val)
NM_001875.5(CPS1):c.2515C>T (p.Leu839Phe)
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn) rs770250368
NM_001875.5(CPS1):c.2573T>C (p.Ile858Thr)
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.2693C>A (p.Ser898Tyr) rs1700079203
NM_001875.5(CPS1):c.2720C>A (p.Ala907Glu) rs1700081346
NM_001875.5(CPS1):c.2764G>A (p.Gly922Arg)
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.2959+5A>G rs745778375
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
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.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.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.347G>A (p.Gly116Glu)
NM_001875.5(CPS1):c.3480+5T>C rs1700524730
NM_001875.5(CPS1):c.349C>T (p.Leu117Phe) rs2106079743
NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln)
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.3756+3A>G rs777990487
NM_001875.5(CPS1):c.3927+5C>A
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.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.4469A>G (p.His1490Arg) rs2105947140
NM_001875.5(CPS1):c.4478A>C (p.Gln1493Pro) rs2105947164
NM_001875.5(CPS1):c.504G>T (p.Met168Ile) rs1194500413
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.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.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.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.952C>A (p.Gln318Lys)
NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)

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