ClinVar Miner

List of variants in gene P2RX2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NC_000012.12:g.132618725A>C rs6560890 0.68895
NM_170682.4(P2RX2):c.555-80T>G rs7964872 0.67309
NM_170682.4(P2RX2):c.468T>C (p.Thr156=) rs7964634 0.67274
NM_170682.4(P2RX2):c.636-13G>A rs6560891 0.66828
NC_000012.12:g.132618549C>A rs6560889 0.66579
NM_170682.4(P2RX2):c.173+50G>A rs11146976 0.66451
NM_170682.4(P2RX2):c.554+51C>T rs7955816 0.63919
NM_170682.4(P2RX2):c.997-40C>T rs4883632 0.53086
NM_170682.4(P2RX2):c.-36T>C rs7314492 0.08839
NM_170682.4(P2RX2):c.*31C>T rs55716322 0.07184
NM_170682.4(P2RX2):c.174-129A>G rs867976663 0.04871
NM_170682.4(P2RX2):c.9C>T (p.Ala3=) rs186684886 0.02469
NM_170682.4(P2RX2):c.554+14C>A rs151253585 0.01337
NM_170682.4(P2RX2):c.1302G>A (p.Pro434=) rs114276183 0.01262
NM_170682.4(P2RX2):c.906-52G>A rs191630133 0.01258
NM_170682.4(P2RX2):c.*153C>A rs115653654 0.01252
NM_170682.4(P2RX2):c.186C>T (p.Ile62=) rs75585377 0.01034
NM_170682.4(P2RX2):c.775-96C>T rs532245448 0.01004
NM_170682.4(P2RX2):c.174-4G>T rs200811971 0.00818
NM_170682.4(P2RX2):c.699C>T (p.Asp233=) rs113782309 0.00585
NM_170682.4(P2RX2):c.*193_*194del rs371656136 0.00411
NM_170682.4(P2RX2):c.554+48T>C rs369349430 0.00322
NM_170682.4(P2RX2):c.1332T>A (p.Pro444=) rs116834114 0.00302
NM_170682.4(P2RX2):c.554+22G>A rs111705428 0.00269
NM_170682.4(P2RX2):c.831G>A (p.Ser277=) rs114365804 0.00190
NM_170682.4(P2RX2):c.774+7C>G rs199743808 0.00186
NM_170682.4(P2RX2):c.-10C>T rs566193497 0.00167
NM_170682.4(P2RX2):c.211G>A (p.Glu71Lys) rs143664462 0.00163
NM_170682.4(P2RX2):c.42C>T (p.Ala14=) rs376966028 0.00097
NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg) rs142844880 0.00097
NM_170682.4(P2RX2):c.906-7A>T rs375236332 0.00081
NM_170682.4(P2RX2):c.426C>A (p.Cys142Ter) rs201447971 0.00068
NM_170682.4(P2RX2):c.382-14C>T rs200306145 0.00064
NM_170682.4(P2RX2):c.922A>G (p.Lys308Glu) rs115331525 0.00051
NM_170682.4(P2RX2):c.947C>T (p.Thr316Met) rs150293706 0.00044
NM_170682.4(P2RX2):c.1151C>T (p.Pro384Leu) rs148054613 0.00030
NM_170682.4(P2RX2):c.905+19C>T rs374221105 0.00027
NM_170682.4(P2RX2):c.381+2T>C rs200978001 0.00022
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys) rs199955493 0.00020
NM_170682.4(P2RX2):c.888G>A (p.Ser296=) rs761621258 0.00020
NM_170682.4(P2RX2):c.708C>T (p.Cys236=) rs111640791 0.00017
NM_170682.4(P2RX2):c.762G>A (p.Glu254=) rs144300117 0.00013
NM_170682.4(P2RX2):c.444C>T (p.Asp148=) rs372588712 0.00012
NM_170682.4(P2RX2):c.887C>T (p.Ser296Leu) rs140717688 0.00012
NM_170682.4(P2RX2):c.1409A>G (p.Gln470Arg) rs369100205 0.00011
NM_170682.4(P2RX2):c.648C>T (p.Ala216=) rs199815935 0.00010
NM_170682.4(P2RX2):c.1085T>G (p.Ile362Ser) rs775913281 0.00009
NM_170682.4(P2RX2):c.1133T>C (p.Phe378Ser) rs143626910 0.00009
NM_170682.4(P2RX2):c.673C>G (p.Arg225Gly) rs202099523 0.00009
NM_170682.4(P2RX2):c.727T>C (p.Phe243Leu) rs149982621 0.00009
NM_170682.4(P2RX2):c.1219G>A (p.Gly407Ser) rs199712315 0.00008
NM_170682.4(P2RX2):c.1376C>T (p.Ala459Val) rs368231244 0.00008
NM_170682.4(P2RX2):c.964G>A (p.Gly322Arg) rs201474543 0.00008
NM_170682.4(P2RX2):c.554+20T>C rs575207648 0.00007
NM_170682.4(P2RX2):c.943C>T (p.Arg315Cys) rs761180947 0.00007
NM_170682.4(P2RX2):c.978C>T (p.Asp326=) rs762231212 0.00007
NM_170682.4(P2RX2):c.817G>T (p.Asp273Tyr) rs767470753 0.00006
NM_170682.4(P2RX2):c.971G>A (p.Arg324His) rs147592928 0.00006
NM_170682.4(P2RX2):c.974T>C (p.Ile325Thr) rs116100744 0.00006
NM_170682.4(P2RX2):c.1056C>T (p.Val352=) rs751840679 0.00004
NM_170682.4(P2RX2):c.1062+18G>A rs145966209 0.00004
NM_170682.4(P2RX2):c.1074G>C (p.Leu358=) rs549714041 0.00004
NM_170682.4(P2RX2):c.1148C>T (p.Thr383Met) rs370189963 0.00004
NM_170682.4(P2RX2):c.1362C>T (p.Ser454=) rs780855570 0.00004
NM_170682.4(P2RX2):c.457G>A (p.Gly153Ser) rs1280267333 0.00004
NM_170682.4(P2RX2):c.56G>A (p.Arg19Gln) rs369473481 0.00004
NM_170682.4(P2RX2):c.138C>T (p.Arg46=) rs750045882 0.00003
NM_170682.4(P2RX2):c.1054G>A (p.Val352Ile) rs775460016 0.00002
NM_170682.4(P2RX2):c.1057G>A (p.Gly353Arg) rs202138002 0.00002
NM_170682.4(P2RX2):c.1414T>C (p.Ter472Arg) rs780374044 0.00002
NM_170682.4(P2RX2):c.381+16G>A rs370361696 0.00002
NM_170682.4(P2RX2):c.930T>C (p.Asn310=) rs369983878 0.00002
NM_170682.4(P2RX2):c.1063-13C>G rs976750532 0.00001
NM_170682.4(P2RX2):c.1063-5C>T rs754870259 0.00001
NM_170682.4(P2RX2):c.1198G>C (p.Gly400Arg) rs759939326 0.00001
NM_170682.4(P2RX2):c.135C>T (p.Tyr45=) rs768621980 0.00001
NM_170682.4(P2RX2):c.1413C>T (p.Leu471=) rs568364905 0.00001
NM_170682.4(P2RX2):c.307del (p.Glu103fs) rs1431818867 0.00001
NM_170682.4(P2RX2):c.635+1del rs769179097 0.00001
NM_170682.4(P2RX2):c.646G>A (p.Ala216Thr) rs775913429 0.00001
NM_170682.4(P2RX2):c.830C>T (p.Ser277Leu) rs1033799448 0.00001
NM_170682.4(P2RX2):c.97G>A (p.Val33Met) rs754340878 0.00001
NC_000012.11:g.(?_133195403)_(133196525_?)dup
NC_000012.11:g.(?_133195428)_(133196229_?)del
NC_000012.12:g.132618603_132618612del rs537567148
NM_170682.4(P2RX2):c.*32G>A rs199542223
NM_170682.4(P2RX2):c.-36T>A rs7314492
NM_170682.4(P2RX2):c.1001G>A (p.Gly334Glu) rs771356090
NM_170682.4(P2RX2):c.1053C>T (p.Ser351=)
NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg) rs202138002
NM_170682.4(P2RX2):c.1062+5G>A
NM_170682.4(P2RX2):c.1063-18G>A
NM_170682.4(P2RX2):c.1063-19C>G
NM_170682.4(P2RX2):c.1063-19del rs2138396032
NM_170682.4(P2RX2):c.1063-20C>G
NM_170682.4(P2RX2):c.1063-8G>A
NM_170682.4(P2RX2):c.1077C>T (p.Cys359=)
NM_170682.4(P2RX2):c.1078G>A (p.Asp360Asn)
NM_170682.4(P2RX2):c.10G>T (p.Ala4Ser)
NM_170682.4(P2RX2):c.1109dup (p.Asn370fs) rs749401595
NM_170682.4(P2RX2):c.1114G>T (p.Val372Phe) rs1213601122
NM_170682.4(P2RX2):c.1119C>G (p.Tyr373Ter)
NM_170682.4(P2RX2):c.1144T>C (p.Cys382Arg)
NM_170682.4(P2RX2):c.1149G>A (p.Thr383=)
NM_170682.4(P2RX2):c.118C>A (p.Arg40Ser)
NM_170682.4(P2RX2):c.1295C>G (p.Ala432Gly)
NM_170682.4(P2RX2):c.1325_1335del (p.Ile441_Ser442insTer) rs876657423
NM_170682.4(P2RX2):c.1334C>T (p.Ser445Phe)
NM_170682.4(P2RX2):c.1344G>A (p.Met448Ile)
NM_170682.4(P2RX2):c.1345G>T (p.Val449Leu) rs2138402876
NM_170682.4(P2RX2):c.1350C>T (p.Asp450=)
NM_170682.4(P2RX2):c.136C>A (p.Arg46Ser)
NM_170682.4(P2RX2):c.143T>G (p.Val48Gly) rs2138343957
NM_170682.4(P2RX2):c.173+11_173+31del rs776129212
NM_170682.4(P2RX2):c.173+129_173+160del rs1555297932
NM_170682.4(P2RX2):c.173+224T>G rs1566290236
NM_170682.4(P2RX2):c.173+25_173+31del rs754704099
NM_170682.4(P2RX2):c.173+28_173+41del rs200710959
NM_170682.4(P2RX2):c.174-14G>A
NM_170682.4(P2RX2):c.174-1G>A
NM_170682.4(P2RX2):c.174-213C>T rs111651416
NM_170682.4(P2RX2):c.174-213_174-212insTGGGGCTGGGACCAGGGGCGCGGGGCA rs1555298024
NM_170682.4(P2RX2):c.174-214_174-213insTGGGG rs1453224005
NM_170682.4(P2RX2):c.174-215_174-211del rs1566290277
NM_170682.4(P2RX2):c.174-221_174-219del rs1566290260
NM_170682.4(P2RX2):c.178G>A (p.Val60Ile) rs587777692
NM_170682.4(P2RX2):c.211_228del (p.Glu71_Ser76del)
NM_170682.4(P2RX2):c.221C>G (p.Pro74Arg) rs2041544044
NM_170682.4(P2RX2):c.222C>T (p.Pro74=)
NM_170682.4(P2RX2):c.244G>A (p.Val82Ile)
NM_170682.4(P2RX2):c.277T>C (p.Trp93Arg)
NM_170682.4(P2RX2):c.288G>A (p.Glu96=)
NM_170682.4(P2RX2):c.291G>A (p.Glu97=)
NM_170682.4(P2RX2):c.305_306insA (p.Glu103fs)
NM_170682.4(P2RX2):c.306dup (p.Glu103fs)
NM_170682.4(P2RX2):c.309+11C>T
NM_170682.4(P2RX2):c.309+5G>A
NM_170682.4(P2RX2):c.310-14_310-13del
NM_170682.4(P2RX2):c.310-17C>T
NM_170682.4(P2RX2):c.332T>C (p.Ile111Thr)
NM_170682.4(P2RX2):c.35C>T (p.Ala12Val)
NM_170682.4(P2RX2):c.374G>A (p.Cys125Tyr)
NM_170682.4(P2RX2):c.382-2A>C
NM_170682.4(P2RX2):c.399C>T (p.Asn133=)
NM_170682.4(P2RX2):c.39C>T (p.Thr13=)
NM_170682.4(P2RX2):c.40G>C (p.Ala14Pro)
NM_170682.4(P2RX2):c.415G>A (p.Asp139Asn)
NM_170682.4(P2RX2):c.418G>A (p.Ala140Thr)
NM_170682.4(P2RX2):c.434G>T (p.Gly145Val)
NM_170682.4(P2RX2):c.435G>A (p.Gly145=)
NM_170682.4(P2RX2):c.447G>A (p.Met149Ile)
NM_170682.4(P2RX2):c.453_457+26del
NM_170682.4(P2RX2):c.457+11G>T
NM_170682.4(P2RX2):c.457+12C>A
NM_170682.4(P2RX2):c.458-20C>T
NM_170682.4(P2RX2):c.468_469inv (p.Gly157Arg)
NM_170682.4(P2RX2):c.479T>C (p.Val160Ala)
NM_170682.4(P2RX2):c.47G>T (p.Arg16Leu)
NM_170682.4(P2RX2):c.491A>T (p.Gln164Leu)
NM_170682.4(P2RX2):c.524G>A (p.Trp175Ter)
NM_170682.4(P2RX2):c.542G>T (p.Gly181Val) rs2138367883
NM_170682.4(P2RX2):c.555-14C>T
NM_170682.4(P2RX2):c.572T>C (p.Met191Thr)
NM_170682.4(P2RX2):c.58G>A (p.Gly20Ser)
NM_170682.4(P2RX2):c.593TCA[1] (p.Ile199del) rs780520481
NM_170682.4(P2RX2):c.625C>T (p.His209Tyr)
NM_170682.4(P2RX2):c.62G>A (p.Cys21Tyr) rs571646540
NM_170682.4(P2RX2):c.635+10G>A
NM_170682.4(P2RX2):c.635+14G>A
NM_170682.4(P2RX2):c.635+2_635+5del
NM_170682.4(P2RX2):c.638G>A (p.Gly213Asp)
NM_170682.4(P2RX2):c.64T>C (p.Trp22Arg)
NM_170682.4(P2RX2):c.653G>A (p.Arg218His)
NM_170682.4(P2RX2):c.656C>A (p.Thr219Lys)
NM_170682.4(P2RX2):c.690G>A (p.Glu230=)
NM_170682.4(P2RX2):c.695C>T (p.Ser232Phe)
NM_170682.4(P2RX2):c.697G>A (p.Asp233Asn)
NM_170682.4(P2RX2):c.69C>G (p.Ser23=)
NM_170682.4(P2RX2):c.700C>T (p.Leu234Phe) rs777917433
NM_170682.4(P2RX2):c.704A>G (p.Tyr235Cys)
NM_170682.4(P2RX2):c.710C>G (p.Pro237Arg)
NM_170682.4(P2RX2):c.710C>T (p.Pro237Leu) rs2138375183
NM_170682.4(P2RX2):c.758C>G (p.Thr253Arg) rs2138376002
NM_170682.4(P2RX2):c.762G>C (p.Glu254Asp)
NM_170682.4(P2RX2):c.770A>G (p.His257Arg)
NM_170682.4(P2RX2):c.774+123del rs11364942
NM_170682.4(P2RX2):c.774+18A>T rs2041621288
NM_170682.4(P2RX2):c.774+26_774+36dup
NM_170682.4(P2RX2):c.775-74_775-14del rs1566296912
NM_170682.4(P2RX2):c.775-8_775-6del rs876657424
NM_170682.4(P2RX2):c.775-93_775-33del rs55726692
NM_170682.4(P2RX2):c.782T>A (p.Val261Asp)
NM_170682.4(P2RX2):c.786C>T (p.Ile262=)
NM_170682.4(P2RX2):c.826G>C (p.Ala276Pro)
NM_170682.4(P2RX2):c.844A>C (p.Lys282Gln) rs2138385900
NM_170682.4(P2RX2):c.847T>G (p.Tyr283Asp)
NM_170682.4(P2RX2):c.856C>T (p.Arg286Trp)
NM_170682.4(P2RX2):c.857G>A (p.Arg286Gln)
NM_170682.4(P2RX2):c.85G>T (p.Glu29Ter)
NM_170682.4(P2RX2):c.903C>T (p.Phe301=)
NM_170682.4(P2RX2):c.905+20G>A rs753341285
NM_170682.4(P2RX2):c.906-5T>A
NM_170682.4(P2RX2):c.906-9C>T
NM_170682.4(P2RX2):c.913A>C (p.Lys305Gln)
NM_170682.4(P2RX2):c.920A>G (p.Tyr307Cys) rs2138389434
NM_170682.4(P2RX2):c.936C>T (p.Thr312=)
NM_170682.4(P2RX2):c.942C>A (p.Thr314=) rs1377461462
NM_170682.4(P2RX2):c.944G>A (p.Arg315His)
NM_170682.4(P2RX2):c.948G>A (p.Thr316=)
NM_170682.4(P2RX2):c.963C>T (p.Tyr321=)
NM_170682.4(P2RX2):c.970C>T (p.Arg324Cys)
NM_170682.4(P2RX2):c.983T>C (p.Ile328Thr)
NM_170682.4(P2RX2):c.986T>C (p.Val329Ala)
NM_170682.4(P2RX2):c.996+12T>C
NM_170682.4(P2RX2):c.996+20del
NM_170682.4(P2RX2):c.996+2T>A
NM_170682.4(P2RX2):c.996G>A (p.Gln332=)
NM_174873.2(P2RX2):c.314del
NM_174873.2(P2RX2):c.314dup

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