ClinVar Miner

List of variants reported as likely benign for Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 307
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HGVS dbSNP gnomAD frequency
NM_001330588.2(TPP2):c.3579+8T>G rs200038215 0.00083
NM_001330588.2(TPP2):c.3335A>G (p.Lys1112Arg) rs141032667 0.00073
NM_001330588.2(TPP2):c.3580-8C>T rs150748717 0.00069
NM_001330588.2(TPP2):c.3222T>C (p.His1074=) rs147337260 0.00055
NM_001330588.2(TPP2):c.2610C>T (p.Gly870=) rs150615380 0.00044
NM_001330588.2(TPP2):c.2490+13C>T rs142503621 0.00036
NM_001330588.2(TPP2):c.993A>G (p.Glu331=) rs150142673 0.00028
NM_001330588.2(TPP2):c.1668G>A (p.Pro556=) rs144307937 0.00026
NM_001330588.2(TPP2):c.165+14C>T rs766433532 0.00022
NM_001330588.2(TPP2):c.2021-12T>G rs552617984 0.00021
NM_001330588.2(TPP2):c.2904T>C (p.Tyr968=) rs144726148 0.00019
NM_001330588.2(TPP2):c.3240+8A>G rs373826214 0.00017
NM_001330588.2(TPP2):c.2021-14C>G rs200727945 0.00016
NM_001330588.2(TPP2):c.3300A>G (p.Ile1100Met) rs182670976 0.00016
NM_001330588.2(TPP2):c.3627G>C (p.Gly1209=) rs139444631 0.00016
NM_001330588.2(TPP2):c.12T>A (p.Ala4=) rs763497812 0.00013
NM_001330588.2(TPP2):c.708T>C (p.Phe236=) rs779885770 0.00010
NM_001330588.2(TPP2):c.3144-18T>A rs377438262 0.00009
NM_001330588.2(TPP2):c.3240+11T>C rs200420127 0.00009
NM_001330588.2(TPP2):c.538T>C (p.Leu180=) rs200946789 0.00009
NM_001330588.2(TPP2):c.30C>T (p.Phe10=) rs146085226 0.00008
NM_001330588.2(TPP2):c.609C>T (p.Gly203=) rs781303333 0.00008
NM_001330588.2(TPP2):c.1545A>G (p.Thr515=) rs372137414 0.00007
NM_001330588.2(TPP2):c.1875G>A (p.Pro625=) rs139342478 0.00007
NM_001330588.2(TPP2):c.3465C>T (p.Asp1155=) rs369191908 0.00007
NM_001330588.2(TPP2):c.2020+19T>A rs753246899 0.00006
NM_001330588.2(TPP2):c.2409A>G (p.Lys803=) rs145608159 0.00006
NM_001330588.2(TPP2):c.3144-9C>T rs954265350 0.00006
NM_001330588.2(TPP2):c.543A>G (p.Leu181=) rs200175033 0.00006
NM_001330588.2(TPP2):c.620+19A>G rs373025518 0.00006
NM_001330588.2(TPP2):c.2343C>T (p.Tyr781=) rs1039236504 0.00005
NM_001330588.2(TPP2):c.2898A>G (p.Gly966=) rs774787098 0.00005
NM_001330588.2(TPP2):c.620+9C>T rs758663262 0.00005
NM_001330588.2(TPP2):c.828T>C (p.Phe276=) rs199665537 0.00005
NM_001330588.2(TPP2):c.1578T>C (p.Thr526=) rs763202320 0.00004
NM_001330588.2(TPP2):c.1812A>G (p.Leu604=) rs927519073 0.00004
NM_001330588.2(TPP2):c.1836+7A>G rs200729697 0.00004
NM_001330588.2(TPP2):c.2334C>G (p.Ser778=) rs371814937 0.00004
NM_001330588.2(TPP2):c.654G>A (p.Leu218=) rs760067650 0.00004
NM_001330588.2(TPP2):c.6C>T (p.Ala2=) rs974068627 0.00004
NM_001330588.2(TPP2):c.1244+17C>T rs761701817 0.00003
NM_001330588.2(TPP2):c.126C>T (p.Val42=) rs555886020 0.00003
NM_001330588.2(TPP2):c.147G>T (p.Pro49=) rs1451564173 0.00003
NM_001330588.2(TPP2):c.1837-17C>G rs185782747 0.00003
NM_001330588.2(TPP2):c.2175+7T>G rs748096122 0.00003
NM_001330588.2(TPP2):c.2293-9C>T rs777126252 0.00003
NM_001330588.2(TPP2):c.2538A>G (p.Leu846=) rs369000735 0.00003
NM_001330588.2(TPP2):c.2628+9T>C rs762688325 0.00003
NM_001330588.2(TPP2):c.288G>A (p.Val96=) rs771159371 0.00003
NM_001330588.2(TPP2):c.390+7T>G rs373447015 0.00003
NM_001330588.2(TPP2):c.72C>G (p.Ala24=) rs780120613 0.00003
NM_001330588.2(TPP2):c.858T>G (p.Ala286=) rs992675210 0.00003
NM_001330588.2(TPP2):c.1089T>C (p.Asn363=) rs1404617195 0.00002
NM_001330588.2(TPP2):c.1510-19T>C rs1023083602 0.00002
NM_001330588.2(TPP2):c.1533C>T (p.Leu511=) rs748887989 0.00002
NM_001330588.2(TPP2):c.2873+9T>G rs1360956464 0.00002
NM_001330588.2(TPP2):c.3207C>T (p.Tyr1069=) rs768789175 0.00002
NM_001330588.2(TPP2):c.495+13C>T rs557799155 0.00002
NM_001330588.2(TPP2):c.567C>T (p.Ser189=) rs145793387 0.00002
NM_001330588.2(TPP2):c.909A>C (p.Thr303=) rs973353504 0.00002
NM_001330588.2(TPP2):c.1016+17A>G rs536710684 0.00001
NM_001330588.2(TPP2):c.111G>T (p.Gly37=) rs199899151 0.00001
NM_001330588.2(TPP2):c.1144+18G>A rs1048583455 0.00001
NM_001330588.2(TPP2):c.1182T>C (p.Ala394=) rs775400950 0.00001
NM_001330588.2(TPP2):c.1244+18G>A rs767374436 0.00001
NM_001330588.2(TPP2):c.1251C>T (p.Asp417=) rs961929245 0.00001
NM_001330588.2(TPP2):c.1278G>A (p.Ala426=) rs756701909 0.00001
NM_001330588.2(TPP2):c.1326G>A (p.Thr442=) rs764676334 0.00001
NM_001330588.2(TPP2):c.1404T>A (p.Ala468=) rs779195878 0.00001
NM_001330588.2(TPP2):c.1416C>T (p.Asp472=) rs752838507 0.00001
NM_001330588.2(TPP2):c.1473T>C (p.Asn491=) rs1199667653 0.00001
NM_001330588.2(TPP2):c.1509+18A>G rs1269519156 0.00001
NM_001330588.2(TPP2):c.1602C>T (p.Tyr534=) rs1882375426 0.00001
NM_001330588.2(TPP2):c.1644C>T (p.Gly548=) rs377541134 0.00001
NM_001330588.2(TPP2):c.1678+19G>A rs564025709 0.00001
NM_001330588.2(TPP2):c.1679-14C>A rs374220714 0.00001
NM_001330588.2(TPP2):c.1679-8C>T rs753683868 0.00001
NM_001330588.2(TPP2):c.174T>G (p.Thr58=) rs373226219 0.00001
NM_001330588.2(TPP2):c.1974A>G (p.Gln658=) rs141172767 0.00001
NM_001330588.2(TPP2):c.1983G>A (p.Arg661=) rs145016190 0.00001
NM_001330588.2(TPP2):c.2037G>A (p.Ser679=) rs149060291 0.00001
NM_001330588.2(TPP2):c.2115A>G (p.Glu705=) rs756354945 0.00001
NM_001330588.2(TPP2):c.2176-10T>C rs755159255 0.00001
NM_001330588.2(TPP2):c.2184A>G (p.Lys728=) rs370830346 0.00001
NM_001330588.2(TPP2):c.2293-15A>C rs1309856183 0.00001
NM_001330588.2(TPP2):c.2388A>C (p.Thr796=) rs753411331 0.00001
NM_001330588.2(TPP2):c.2566C>T (p.Leu856=) rs772207655 0.00001
NM_001330588.2(TPP2):c.2688A>G (p.Gln896=) rs765677705 0.00001
NM_001330588.2(TPP2):c.2721A>G (p.Pro907=) rs777883496 0.00001
NM_001330588.2(TPP2):c.2751C>G (p.Thr917=) rs769864982 0.00001
NM_001330588.2(TPP2):c.294+7C>T rs765360360 0.00001
NM_001330588.2(TPP2):c.2992-4G>A rs180818466 0.00001
NM_001330588.2(TPP2):c.2992-5C>T rs779424616 0.00001
NM_001330588.2(TPP2):c.3084A>G (p.Lys1028=) rs750156544 0.00001
NM_001330588.2(TPP2):c.3099G>A (p.Glu1033=) rs983408849 0.00001
NM_001330588.2(TPP2):c.3144-14T>C rs754577784 0.00001
NM_001330588.2(TPP2):c.3348G>A (p.Arg1116=) rs1236517011 0.00001
NM_001330588.2(TPP2):c.3501G>A (p.Glu1167=) rs910131314 0.00001
NM_001330588.2(TPP2):c.3579+15T>G rs778676264 0.00001
NM_001330588.2(TPP2):c.3580-13T>A rs373513739 0.00001
NM_001330588.2(TPP2):c.3699+17A>G rs201999783 0.00001
NM_001330588.2(TPP2):c.3756C>T (p.Pro1252=) rs1279447703 0.00001
NM_001330588.2(TPP2):c.3771C>T (p.Pro1257=) rs112235390 0.00001
NM_001330588.2(TPP2):c.3780C>T (p.Cys1260=) rs771127079 0.00001
NM_001330588.2(TPP2):c.462A>G (p.Glu154=) rs755154776 0.00001
NM_001330588.2(TPP2):c.621-7T>C rs761237031 0.00001
NM_001330588.2(TPP2):c.747C>T (p.Tyr249=) rs945024942 0.00001
NM_001330588.2(TPP2):c.784+8A>G rs763412319 0.00001
NM_001330588.2(TPP2):c.813A>T (p.Ile271=) rs146964134 0.00001
NM_001330588.2(TPP2):c.852G>A (p.Gly284=) rs762003900 0.00001
NM_001330588.2(TPP2):c.939+15G>A rs765009298 0.00001
NM_001330588.2(TPP2):c.987C>T (p.Tyr329=) rs776689512 0.00001
NM_001330588.2(TPP2):c.9C>T (p.Thr3=) rs775866998 0.00001
NM_001330588.2(TPP2):c.1017-11C>G
NM_001330588.2(TPP2):c.1017-16A>G
NM_001330588.2(TPP2):c.1053G>A (p.Lys351=)
NM_001330588.2(TPP2):c.105G>T (p.Gly35=)
NM_001330588.2(TPP2):c.1065T>C (p.Ile355=) rs2139484711
NM_001330588.2(TPP2):c.1083A>G (p.Gly361=) rs2139484753
NM_001330588.2(TPP2):c.1131A>T (p.Thr377=) rs2139484831
NM_001330588.2(TPP2):c.1145-6C>T rs2139486391
NM_001330588.2(TPP2):c.1149T>C (p.Val383=) rs372489919
NM_001330588.2(TPP2):c.1206A>G (p.Leu402=)
NM_001330588.2(TPP2):c.1242T>A (p.Pro414=)
NM_001330588.2(TPP2):c.1244+19C>T
NM_001330588.2(TPP2):c.1244+7_1244+8delinsTG rs2139486558
NM_001330588.2(TPP2):c.1244+8del
NM_001330588.2(TPP2):c.1245-12C>T
NM_001330588.2(TPP2):c.1254G>A (p.Gly418=) rs2139499283
NM_001330588.2(TPP2):c.1257C>A (p.Ala419=)
NM_001330588.2(TPP2):c.127C>T (p.Leu43=) rs1265775874
NM_001330588.2(TPP2):c.1296T>C (p.Ala432=)
NM_001330588.2(TPP2):c.1320A>G (p.Arg440=)
NM_001330588.2(TPP2):c.1332G>A (p.Leu444=)
NM_001330588.2(TPP2):c.135G>A (p.Thr45=)
NM_001330588.2(TPP2):c.135G>T (p.Thr45=) rs373143538
NM_001330588.2(TPP2):c.1393+11T>A
NM_001330588.2(TPP2):c.1393+19G>A
NM_001330588.2(TPP2):c.1393+7G>A rs200827691
NM_001330588.2(TPP2):c.1393+8T>C rs2139499715
NM_001330588.2(TPP2):c.1394-11C>G
NM_001330588.2(TPP2):c.1394-15G>A
NM_001330588.2(TPP2):c.1394-16T>C rs2139504272
NM_001330588.2(TPP2):c.1497T>C (p.His499=)
NM_001330588.2(TPP2):c.1509+19A>G
NM_001330588.2(TPP2):c.1510-10T>C
NM_001330588.2(TPP2):c.1539G>A (p.Gln513=)
NM_001330588.2(TPP2):c.156G>T (p.Pro52=)
NM_001330588.2(TPP2):c.165+10C>A
NM_001330588.2(TPP2):c.165+11C>G
NM_001330588.2(TPP2):c.165+14C>G
NM_001330588.2(TPP2):c.165+19del
NM_001330588.2(TPP2):c.1679-4C>T
NM_001330588.2(TPP2):c.1722T>G (p.Thr574=) rs2139508867
NM_001330588.2(TPP2):c.1731A>C (p.Ser577=) rs770410168
NM_001330588.2(TPP2):c.1731A>G (p.Ser577=)
NM_001330588.2(TPP2):c.1731A>T (p.Ser577=) rs770410168
NM_001330588.2(TPP2):c.1732T>C (p.Ser578Pro) rs546073161
NM_001330588.2(TPP2):c.1836+9G>A rs780733158
NM_001330588.2(TPP2):c.1837-11C>A rs1882518548
NM_001330588.2(TPP2):c.1837-16del rs752034417
NM_001330588.2(TPP2):c.1837-18dup
NM_001330588.2(TPP2):c.1837-20_1837-17del
NM_001330588.2(TPP2):c.1837-8T>A
NM_001330588.2(TPP2):c.1839A>G (p.Val613=)
NM_001330588.2(TPP2):c.1866C>T (p.Asn622=)
NM_001330588.2(TPP2):c.1890G>A (p.Pro630=)
NM_001330588.2(TPP2):c.1913+9C>T
NM_001330588.2(TPP2):c.1914-18A>G
NM_001330588.2(TPP2):c.1914-9_1914-6del rs1309818994
NM_001330588.2(TPP2):c.192C>A (p.Ile64=) rs376421521
NM_001330588.2(TPP2):c.192C>T (p.Ile64=)
NM_001330588.2(TPP2):c.195T>C (p.Val65=) rs1461253976
NM_001330588.2(TPP2):c.1962T>C (p.Phe654=) rs749216265
NM_001330588.2(TPP2):c.1980A>G (p.Arg660=)
NM_001330588.2(TPP2):c.1995G>A (p.Glu665=)
NM_001330588.2(TPP2):c.2020+8A>C
NM_001330588.2(TPP2):c.2020+8A>G
NM_001330588.2(TPP2):c.2021-15_2021-8del
NM_001330588.2(TPP2):c.2064T>C (p.Phe688=)
NM_001330588.2(TPP2):c.2067T>C (p.Val689=)
NM_001330588.2(TPP2):c.2100A>C (p.Ala700=)
NM_001330588.2(TPP2):c.2100A>G (p.Ala700=) rs764586916
NM_001330588.2(TPP2):c.2121T>C (p.Tyr707=)
NM_001330588.2(TPP2):c.2133T>C (p.Ser711=)
NM_001330588.2(TPP2):c.2139A>G (p.Pro713=)
NM_001330588.2(TPP2):c.2145A>G (p.Lys715=) rs1368948773
NM_001330588.2(TPP2):c.2163T>G (p.Ala721=)
NM_001330588.2(TPP2):c.2175+12TA[3]
NM_001330588.2(TPP2):c.2176-13C>T
NM_001330588.2(TPP2):c.2176-14A>G
NM_001330588.2(TPP2):c.2176-5T>G
NM_001330588.2(TPP2):c.2199C>T (p.Cys733=)
NM_001330588.2(TPP2):c.21G>A (p.Glu7=)
NM_001330588.2(TPP2):c.222C>A (p.Gly74=)
NM_001330588.2(TPP2):c.222C>T (p.Gly74=)
NM_001330588.2(TPP2):c.2232C>G (p.Val744=)
NM_001330588.2(TPP2):c.2256C>T (p.Phe752=)
NM_001330588.2(TPP2):c.2292+13del
NM_001330588.2(TPP2):c.2292+14C>T rs2139532387
NM_001330588.2(TPP2):c.2292+19T>G rs1882987081
NM_001330588.2(TPP2):c.2293-15A>G
NM_001330588.2(TPP2):c.2298A>T (p.Ala766=)
NM_001330588.2(TPP2):c.2331C>G (p.Ser777=) rs765603975
NM_001330588.2(TPP2):c.2403T>C (p.Ser801=)
NM_001330588.2(TPP2):c.2463G>A (p.Glu821=) rs553421305
NM_001330588.2(TPP2):c.2469C>G (p.Val823=) rs746801019
NM_001330588.2(TPP2):c.2469C>T (p.Val823=)
NM_001330588.2(TPP2):c.2475A>G (p.Thr825=)
NM_001330588.2(TPP2):c.2478T>C (p.Tyr826=)
NM_001330588.2(TPP2):c.2490+18A>G
NM_001330588.2(TPP2):c.2491-18T>C rs199627992
NM_001330588.2(TPP2):c.2491-18T>G rs199627992
NM_001330588.2(TPP2):c.2536C>T (p.Leu846=) rs1429761771
NM_001330588.2(TPP2):c.2577T>A (p.Ile859=)
NM_001330588.2(TPP2):c.2607A>G (p.Ser869=) rs2139540747
NM_001330588.2(TPP2):c.2628+11G>A
NM_001330588.2(TPP2):c.2628+15G>A
NM_001330588.2(TPP2):c.2629-5T>C
NM_001330588.2(TPP2):c.2629-7T>C rs2139546352
NM_001330588.2(TPP2):c.267T>C (p.Ile89=)
NM_001330588.2(TPP2):c.2742G>A (p.Leu914=)
NM_001330588.2(TPP2):c.2745T>C (p.Ser915=)
NM_001330588.2(TPP2):c.27C>T (p.Pro9=) rs2139390365
NM_001330588.2(TPP2):c.2838C>T (p.Asn946=)
NM_001330588.2(TPP2):c.2873+20A>C
NM_001330588.2(TPP2):c.2874-13T>C
NM_001330588.2(TPP2):c.2874-3del
NM_001330588.2(TPP2):c.2874-9C>T
NM_001330588.2(TPP2):c.2910A>G (p.Ala970=)
NM_001330588.2(TPP2):c.2937A>G (p.Glu979=) rs1883352930
NM_001330588.2(TPP2):c.2946G>A (p.Lys982=) rs767808318
NM_001330588.2(TPP2):c.295-13T>C
NM_001330588.2(TPP2):c.295-19A>C rs1163926557
NM_001330588.2(TPP2):c.295-6dup
NM_001330588.2(TPP2):c.295-7T>C
NM_001330588.2(TPP2):c.2992-12C>G
NM_001330588.2(TPP2):c.2992-20A>C
NM_001330588.2(TPP2):c.300T>C (p.Pro100=) rs974610238
NM_001330588.2(TPP2):c.3078A>G (p.Lys1026=)
NM_001330588.2(TPP2):c.3102T>C (p.Phe1034=)
NM_001330588.2(TPP2):c.3115C>A (p.Arg1039=)
NM_001330588.2(TPP2):c.3143+10T>A
NM_001330588.2(TPP2):c.3144-13_3144-11del rs764336466
NM_001330588.2(TPP2):c.3144-15T>C
NM_001330588.2(TPP2):c.3177A>G (p.Lys1059=)
NM_001330588.2(TPP2):c.3183A>G (p.Thr1061=)
NM_001330588.2(TPP2):c.3225A>G (p.Gln1075=) rs1430859407
NM_001330588.2(TPP2):c.3226T>C (p.Leu1076=)
NM_001330588.2(TPP2):c.3240+16del
NM_001330588.2(TPP2):c.3240+8A>T
NM_001330588.2(TPP2):c.3241-16C>A
NM_001330588.2(TPP2):c.3241-8C>T
NM_001330588.2(TPP2):c.330T>C (p.Tyr110=) rs1409090751
NM_001330588.2(TPP2):c.3372-10del
NM_001330588.2(TPP2):c.3399C>T (p.Leu1133=) rs777074145
NM_001330588.2(TPP2):c.3471C>T (p.Ala1157=) rs970261520
NM_001330588.2(TPP2):c.3486A>C (p.Ala1162=)
NM_001330588.2(TPP2):c.3561T>A (p.Thr1187=)
NM_001330588.2(TPP2):c.3580-16A>G
NM_001330588.2(TPP2):c.3580-7A>G rs752429398
NM_001330588.2(TPP2):c.3580-9A>G
NM_001330588.2(TPP2):c.3606A>G (p.Ala1202=)
NM_001330588.2(TPP2):c.3681C>T (p.Asn1227=)
NM_001330588.2(TPP2):c.3690T>C (p.Asn1230=)
NM_001330588.2(TPP2):c.3699+14A>G
NM_001330588.2(TPP2):c.3700-17_3700-15del
NM_001330588.2(TPP2):c.3700-20_3700-16del rs747658900
NM_001330588.2(TPP2):c.3700-4G>C
NM_001330588.2(TPP2):c.3732A>G (p.Ala1244=)
NM_001330588.2(TPP2):c.375C>T (p.Leu125=)
NM_001330588.2(TPP2):c.3771C>G (p.Pro1257=)
NM_001330588.2(TPP2):c.391-10G>A
NM_001330588.2(TPP2):c.391-20T>C rs2139444457
NM_001330588.2(TPP2):c.397C>A (p.Arg133=)
NM_001330588.2(TPP2):c.39C>T (p.His13=)
NM_001330588.2(TPP2):c.402G>A (p.Lys134=)
NM_001330588.2(TPP2):c.411C>A (p.Ile137=)
NM_001330588.2(TPP2):c.426C>T (p.His142=) rs756499056
NM_001330588.2(TPP2):c.447C>T (p.Ala149=)
NM_001330588.2(TPP2):c.459G>A (p.Gln153=) rs369084263
NM_001330588.2(TPP2):c.489T>C (p.Ser163=)
NM_001330588.2(TPP2):c.495+14G>C
NM_001330588.2(TPP2):c.495+17T>G
NM_001330588.2(TPP2):c.495+20A>G rs1880747227
NM_001330588.2(TPP2):c.507A>T (p.Leu169=)
NM_001330588.2(TPP2):c.576C>G (p.Gly192=) rs2139451588
NM_001330588.2(TPP2):c.621-15C>A
NM_001330588.2(TPP2):c.621-15C>T rs1053191857
NM_001330588.2(TPP2):c.621-6T>C
NM_001330588.2(TPP2):c.63C>A (p.Thr21=)
NM_001330588.2(TPP2):c.666C>G (p.Thr222=)
NM_001330588.2(TPP2):c.66A>G (p.Gly22=)
NM_001330588.2(TPP2):c.735C>G (p.Ser245=)
NM_001330588.2(TPP2):c.735C>T (p.Ser245=)
NM_001330588.2(TPP2):c.784+14G>T
NM_001330588.2(TPP2):c.784+21del rs763095506
NM_001330588.2(TPP2):c.784+7C>T
NM_001330588.2(TPP2):c.785-15C>T
NM_001330588.2(TPP2):c.785-6C>T
NM_001330588.2(TPP2):c.792T>C (p.His264=)
NM_001330588.2(TPP2):c.804A>G (p.Val268=)
NM_001330588.2(TPP2):c.888T>C (p.Ile296=)
NM_001330588.2(TPP2):c.906C>T (p.Ser302=)
NM_001330588.2(TPP2):c.921C>G (p.Gly307=) rs2139477912
NM_001330588.2(TPP2):c.963G>A (p.Lys321=)
NM_001330588.2(TPP2):c.9C>G (p.Thr3=)

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