ClinVar Miner

List of variants in gene SH3BP2 reported as uncertain significance for cherubism

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 338
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HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_001122681.2(SH3BP2):c.*3229T>G rs886059374 0.00086
NM_001122681.2(SH3BP2):c.*4161C>T rs771475877 0.00081
NM_001122681.2(SH3BP2):c.*3175C>T rs886059372 0.00060
NM_001122681.2(SH3BP2):c.*6399_*6400insA rs1553809321 0.00054
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) rs200156713 0.00025
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) rs141262371 0.00024
NM_001122681.2(SH3BP2):c.*821A>G rs886059362 0.00016
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) rs200463050 0.00016
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) rs199818232 0.00015
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) rs375094936 0.00014
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) rs374608155 0.00014
NM_001122681.2(SH3BP2):c.*1116C>T rs760035123 0.00012
NM_001122681.2(SH3BP2):c.724del (p.His242fs) rs747250901 0.00011
NM_001122681.2(SH3BP2):c.*3383C>T rs886059375 0.00010
NM_001122681.2(SH3BP2):c.1464G>T (p.Arg488=) rs144848283 0.00010
NM_001122681.2(SH3BP2):c.506C>T (p.Thr169Met) rs201786792 0.00010
NM_001122681.2(SH3BP2):c.628C>T (p.Pro210Ser) rs777085450 0.00010
NM_001122681.2(SH3BP2):c.817A>G (p.Thr273Ala) rs373481284 0.00010
NM_001122681.2(SH3BP2):c.950C>T (p.Thr317Ile) rs371366593 0.00010
NM_001122681.2(SH3BP2):c.1488+6C>T rs548212932 0.00009
NM_001122681.2(SH3BP2):c.587-3C>A rs368839407 0.00009
NM_001122681.2(SH3BP2):c.1350+6G>A rs766189842 0.00008
NM_001122681.2(SH3BP2):c.*3560C>T rs766523218 0.00007
NM_001122681.2(SH3BP2):c.240-16G>A rs752456141 0.00007
NM_001122681.2(SH3BP2):c.*4776T>C rs886059380 0.00006
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp) rs529543434 0.00006
NM_001122681.2(SH3BP2):c.1192C>T (p.Arg398Trp) rs745563984 0.00006
NM_001122681.2(SH3BP2):c.1232C>T (p.Pro411Leu) rs376008602 0.00006
NM_001122681.2(SH3BP2):c.15G>C (p.Glu5Asp) rs370829171 0.00006
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486 0.00006
NM_001122681.2(SH3BP2):c.376C>T (p.Arg126Cys) rs776243893 0.00006
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) rs150461713 0.00006
NM_001122681.2(SH3BP2):c.*2464T>C rs886059366 0.00005
NM_001122681.2(SH3BP2):c.1190C>T (p.Ala397Val) rs527342066 0.00005
NM_001122681.2(SH3BP2):c.1507G>A (p.Glu503Lys) rs767658389 0.00005
NM_001122681.2(SH3BP2):c.32C>T (p.Pro11Leu) rs751798471 0.00005
NM_001122681.2(SH3BP2):c.512A>G (p.Asn171Ser) rs143236581 0.00005
NM_001122681.2(SH3BP2):c.*6660A>G rs886059390 0.00004
NM_001122681.2(SH3BP2):c.1295G>A (p.Arg432Gln) rs200226629 0.00004
NM_001122681.2(SH3BP2):c.1331C>T (p.Ser444Leu) rs137947663 0.00004
NM_001122681.2(SH3BP2):c.1351-13C>T rs367963191 0.00004
NM_001122681.2(SH3BP2):c.1573G>A (p.Glu525Lys) rs142735744 0.00004
NM_001122681.2(SH3BP2):c.1666G>A (p.Gly556Ser) rs201197278 0.00004
NM_001122681.2(SH3BP2):c.947C>T (p.Ser316Phe) rs1235042756 0.00004
NM_001122681.2(SH3BP2):c.*1947C>T rs770509235 0.00003
NM_001122681.2(SH3BP2):c.*5583G>A rs886059383 0.00003
NM_001122681.2(SH3BP2):c.*6037T>C rs886059385 0.00003
NM_001122681.2(SH3BP2):c.1135C>T (p.Pro379Ser) rs759054470 0.00003
NM_001122681.2(SH3BP2):c.1321G>A (p.Gly441Arg) rs146202519 0.00003
NM_001122681.2(SH3BP2):c.1535G>A (p.Arg512His) rs373119331 0.00003
NM_001122681.2(SH3BP2):c.167G>A (p.Arg56His) rs779608979 0.00003
NM_001122681.2(SH3BP2):c.410A>G (p.Asp137Gly) rs777468144 0.00003
NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu) rs567769591 0.00003
NM_001122681.2(SH3BP2):c.517+5G>A rs367984149 0.00003
NM_001122681.2(SH3BP2):c.713C>T (p.Pro238Leu) rs369270340 0.00003
NM_001122681.2(SH3BP2):c.907C>G (p.Pro303Ala) rs146469368 0.00003
NM_001122681.2(SH3BP2):c.914C>T (p.Pro305Leu) rs555463039 0.00003
NM_001122681.2(SH3BP2):c.967A>G (p.Met323Val) rs1482037731 0.00003
NM_001122681.2(SH3BP2):c.*128T>C rs886059359 0.00002
NM_001122681.2(SH3BP2):c.*1489G>A rs886059364 0.00002
NM_001122681.2(SH3BP2):c.*3387G>A rs886059376 0.00002
NM_001122681.2(SH3BP2):c.*6061G>C rs886059386 0.00002
NM_001122681.2(SH3BP2):c.1117A>G (p.Met373Val) rs1242360913 0.00002
NM_001122681.2(SH3BP2):c.1133T>C (p.Val378Ala) rs774058201 0.00002
NM_001122681.2(SH3BP2):c.1187T>C (p.Met396Thr) rs749171361 0.00002
NM_001122681.2(SH3BP2):c.1327G>A (p.Asp443Asn) rs907019445 0.00002
NM_001122681.2(SH3BP2):c.1448G>C (p.Gly483Ala) rs748160727 0.00002
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) rs373554386 0.00002
NM_001122681.2(SH3BP2):c.1534C>T (p.Arg512Cys) rs369562627 0.00002
NM_001122681.2(SH3BP2):c.353G>A (p.Arg118His) rs772096716 0.00002
NM_001122681.2(SH3BP2):c.560A>G (p.Asp187Gly) rs753681184 0.00002
NM_001122681.2(SH3BP2):c.574G>A (p.Gly192Arg) rs765339575 0.00002
NM_001122681.2(SH3BP2):c.632C>T (p.Thr211Met) rs375942374 0.00002
NM_001122681.2(SH3BP2):c.688G>T (p.Gly230Cys) rs769244623 0.00002
NM_001122681.2(SH3BP2):c.757G>A (p.Asp253Asn) rs763881667 0.00002
NM_001122681.2(SH3BP2):c.788G>A (p.Arg263Gln) rs748657780 0.00002
NM_001122681.2(SH3BP2):c.874C>T (p.Arg292Trp) rs746025620 0.00002
NM_001122681.2(SH3BP2):c.*3106A>T rs886059369 0.00001
NM_001122681.2(SH3BP2):c.*3111C>G rs886059370 0.00001
NM_001122681.2(SH3BP2):c.*3667G>A rs886059377 0.00001
NM_001122681.2(SH3BP2):c.*88T>C rs886059358 0.00001
NM_001122681.2(SH3BP2):c.-4-1590C>T rs372664062 0.00001
NM_001122681.2(SH3BP2):c.1007C>T (p.Ser336Phe) rs773105147 0.00001
NM_001122681.2(SH3BP2):c.1052C>G (p.Pro351Arg) rs1724890588 0.00001
NM_001122681.2(SH3BP2):c.1097A>G (p.Asp366Gly) rs1453717053 0.00001
NM_001122681.2(SH3BP2):c.1103C>A (p.Pro368Gln) rs781072584 0.00001
NM_001122681.2(SH3BP2):c.1160C>T (p.Ala387Val) rs372762732 0.00001
NM_001122681.2(SH3BP2):c.1234C>T (p.His412Tyr) rs764213233 0.00001
NM_001122681.2(SH3BP2):c.127C>G (p.Leu43Val) rs368574144 0.00001
NM_001122681.2(SH3BP2):c.1292C>T (p.Pro431Leu) rs754582989 0.00001
NM_001122681.2(SH3BP2):c.1345_1347del (p.Glu449del) rs1724993599 0.00001
NM_001122681.2(SH3BP2):c.1382C>T (p.Thr461Ile) rs773282036 0.00001
NM_001122681.2(SH3BP2):c.1396G>A (p.Glu466Lys) rs946632787 0.00001
NM_001122681.2(SH3BP2):c.1426C>T (p.Pro476Ser) rs776527305 0.00001
NM_001122681.2(SH3BP2):c.1430G>A (p.Arg477Gln) rs762558421 0.00001
NM_001122681.2(SH3BP2):c.1457G>A (p.Cys486Tyr) rs1725036218 0.00001
NM_001122681.2(SH3BP2):c.1488G>A (p.Lys496=) rs748012203 0.00001
NM_001122681.2(SH3BP2):c.1496T>G (p.Val499Gly) rs751799854 0.00001
NM_001122681.2(SH3BP2):c.1574A>G (p.Glu525Gly) rs1172008192 0.00001
NM_001122681.2(SH3BP2):c.160C>A (p.His54Asn) rs765023340 0.00001
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys) rs758096402 0.00001
NM_001122681.2(SH3BP2):c.1675G>T (p.Gly559Trp) rs776809624 0.00001
NM_001122681.2(SH3BP2):c.206C>T (p.Pro69Leu) rs775642148 0.00001
NM_001122681.2(SH3BP2):c.221C>T (p.Ser74Phe) rs532591178 0.00001
NM_001122681.2(SH3BP2):c.238C>T (p.Arg80Trp) rs372066896 0.00001
NM_001122681.2(SH3BP2):c.256G>T (p.Glu86Ter) rs890566926 0.00001
NM_001122681.2(SH3BP2):c.316C>T (p.Arg106Cys) rs760277294 0.00001
NM_001122681.2(SH3BP2):c.393C>G (p.His131Gln) rs781060795 0.00001
NM_001122681.2(SH3BP2):c.400G>A (p.Glu134Lys) rs769545519 0.00001
NM_001122681.2(SH3BP2):c.428+1G>C rs769264475 0.00001
NM_001122681.2(SH3BP2):c.429C>G (p.Ser143Arg) rs140532510 0.00001
NM_001122681.2(SH3BP2):c.44T>C (p.Ile15Thr) rs777574434 0.00001
NM_001122681.2(SH3BP2):c.463G>A (p.Ala155Thr) rs766158687 0.00001
NM_001122681.2(SH3BP2):c.527A>G (p.His176Arg) rs779050688 0.00001
NM_001122681.2(SH3BP2):c.586+5G>T rs758216830 0.00001
NM_001122681.2(SH3BP2):c.605C>T (p.Pro202Leu) rs921887620 0.00001
NM_001122681.2(SH3BP2):c.625G>A (p.Val209Met) rs1281385097 0.00001
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) rs150572069 0.00001
NM_001122681.2(SH3BP2):c.664C>T (p.Arg222Trp) rs201459890 0.00001
NM_001122681.2(SH3BP2):c.760T>C (p.Ser254Pro) rs1211847666 0.00001
NM_001122681.2(SH3BP2):c.771C>G (p.Asp257Glu) rs753445987 0.00001
NM_001122681.2(SH3BP2):c.796C>T (p.Pro266Ser) rs1418589091 0.00001
NM_001122681.2(SH3BP2):c.803C>G (p.Pro268Arg) rs148592718 0.00001
NM_001122681.2(SH3BP2):c.823C>T (p.Arg275Ter) rs1282774369 0.00001
NM_001122681.2(SH3BP2):c.862G>A (p.Ala288Thr) rs756606586 0.00001
NM_001122681.2(SH3BP2):c.886T>C (p.Cys296Arg) rs1724878185 0.00001
NM_001122681.2(SH3BP2):c.892C>T (p.Arg298Trp) rs776406405 0.00001
NM_001122681.2(SH3BP2):c.893G>A (p.Arg298Gln) rs1042293143 0.00001
NM_001122681.2(SH3BP2):c.930del (p.Gly311fs) rs762935038 0.00001
NM_001122681.2(SH3BP2):c.932G>A (p.Gly311Asp) rs147908313 0.00001
NM_001122681.2(SH3BP2):c.944G>C (p.Cys315Ser) rs1312017070 0.00001
NC_000004.11:g.(?_2822345)_(2822500_?)del
NC_000004.11:g.(?_2822345)_(2822500_?)dup
NC_000004.12:g.(?_2812378)_(2820773_?)dup
NM_001122681.2(SH3BP2):c.*1401C>T rs886059363
NM_001122681.2(SH3BP2):c.*2353CT[1] rs886059365
NM_001122681.2(SH3BP2):c.*2574G>A rs886059367
NM_001122681.2(SH3BP2):c.*2665C>G rs886059368
NM_001122681.2(SH3BP2):c.*3132TCT[1] rs753767983
NM_001122681.2(SH3BP2):c.*3220T>C rs886059373
NM_001122681.2(SH3BP2):c.*3911C>T rs886059378
NM_001122681.2(SH3BP2):c.*415G>A rs886059360
NM_001122681.2(SH3BP2):c.*4817_*4818dup rs397878760
NM_001122681.2(SH3BP2):c.*5322TCTTTT[2] rs886059381
NM_001122681.2(SH3BP2):c.*5496A>T rs886059382
NM_001122681.2(SH3BP2):c.*5613C>T rs886059384
NM_001122681.2(SH3BP2):c.*5738dup rs1553809216
NM_001122681.2(SH3BP2):c.*618G>A rs886059361
NM_001122681.2(SH3BP2):c.*6419_*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6580del rs886059389
NM_001122681.2(SH3BP2):c.*6928T>C rs886059391
NM_001122681.2(SH3BP2):c.*7167del rs566926916
NM_001122681.2(SH3BP2):c.*7167dup rs566926916
NM_001122681.2(SH3BP2):c.1005G>T (p.Lys335Asn)
NM_001122681.2(SH3BP2):c.1024C>T (p.Arg342Ter)
NM_001122681.2(SH3BP2):c.1033C>G (p.Pro345Ala) rs1317170986
NM_001122681.2(SH3BP2):c.1039T>C (p.Ser347Pro) rs1274772239
NM_001122681.2(SH3BP2):c.1045C>T (p.Pro349Ser)
NM_001122681.2(SH3BP2):c.1049C>G (p.Pro350Arg) rs762177276
NM_001122681.2(SH3BP2):c.1061C>A (p.Ala354Asp)
NM_001122681.2(SH3BP2):c.1061C>T (p.Ala354Val) rs1016515984
NM_001122681.2(SH3BP2):c.1084A>G (p.Ile362Val)
NM_001122681.2(SH3BP2):c.1102C>T (p.Pro368Ser)
NM_001122681.2(SH3BP2):c.1103C>T (p.Pro368Leu) rs781072584
NM_001122681.2(SH3BP2):c.1103del (p.Pro368fs) rs1560111269
NM_001122681.2(SH3BP2):c.1108_1109delinsAG (p.Glu370Arg)
NM_001122681.2(SH3BP2):c.1118T>C (p.Met373Thr)
NM_001122681.2(SH3BP2):c.1120C>T (p.Pro374Ser) rs2108739211
NM_001122681.2(SH3BP2):c.112G>A (p.Gly38Ser) rs773829474
NM_001122681.2(SH3BP2):c.112G>C (p.Gly38Arg)
NM_001122681.2(SH3BP2):c.1130T>C (p.Phe377Ser) rs1724895905
NM_001122681.2(SH3BP2):c.1132G>T (p.Val378Leu) rs1724896293
NM_001122681.2(SH3BP2):c.1140dup (p.Val381fs) rs759199606
NM_001122681.2(SH3BP2):c.1145C>G (p.Ala382Gly)
NM_001122681.2(SH3BP2):c.1153CCT[1] (p.Pro386del) rs1303791404
NM_001122681.2(SH3BP2):c.1154C>T (p.Pro385Leu)
NM_001122681.2(SH3BP2):c.1157C>T (p.Pro386Leu)
NM_001122681.2(SH3BP2):c.1169T>C (p.Leu390Pro)
NM_001122681.2(SH3BP2):c.1172C>T (p.Pro391Leu)
NM_001122681.2(SH3BP2):c.1175T>C (p.Val392Ala) rs2108739303
NM_001122681.2(SH3BP2):c.1177C>T (p.Pro393Ser)
NM_001122681.2(SH3BP2):c.1178C>T (p.Pro393Leu) rs1724900397
NM_001122681.2(SH3BP2):c.1184C>T (p.Ala395Val) rs777927746
NM_001122681.2(SH3BP2):c.1186A>G (p.Met396Val)
NM_001122681.2(SH3BP2):c.1190C>G (p.Ala397Gly) rs527342066
NM_001122681.2(SH3BP2):c.1205T>G (p.Leu402Arg) rs1724903131
NM_001122681.2(SH3BP2):c.1208C>T (p.Pro403Leu)
NM_001122681.2(SH3BP2):c.1216G>C (p.Glu406Gln)
NM_001122681.2(SH3BP2):c.1223C>T (p.Pro408Leu)
NM_001122681.2(SH3BP2):c.1244G>T (p.Arg415Leu) rs121909149
NM_001122681.2(SH3BP2):c.1252C>G (p.Pro418Ala)
NM_001122681.2(SH3BP2):c.1254dup (p.Asp419fs) rs752422406
NM_001122681.2(SH3BP2):c.1258G>T (p.Gly420Trp)
NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu) rs28938171
NM_001122681.2(SH3BP2):c.125A>C (p.Gln42Pro)
NM_001122681.2(SH3BP2):c.1261C>T (p.Gln421Ter)
NM_001122681.2(SH3BP2):c.1264_1265del (p.Ser422fs) rs1724988286
NM_001122681.2(SH3BP2):c.1275C>A (p.Ser425Arg) rs972728940
NM_001122681.2(SH3BP2):c.1291C>A (p.Pro431Thr) rs1486769271
NM_001122681.2(SH3BP2):c.1299A>C (p.Gln433His)
NM_001122681.2(SH3BP2):c.1299A>G (p.Gln433=) rs886059357
NM_001122681.2(SH3BP2):c.1300C>T (p.Pro434Ser)
NM_001122681.2(SH3BP2):c.1310C>T (p.Ala437Val)
NM_001122681.2(SH3BP2):c.1326C>A (p.Asp442Glu) rs761864704
NM_001122681.2(SH3BP2):c.1330T>A (p.Ser444Thr) rs1724992271
NM_001122681.2(SH3BP2):c.1342T>C (p.Tyr448His)
NM_001122681.2(SH3BP2):c.1343A>C (p.Tyr448Ser) rs1291034009
NM_001122681.2(SH3BP2):c.1343A>T (p.Tyr448Phe)
NM_001122681.2(SH3BP2):c.136+5G>A
NM_001122681.2(SH3BP2):c.1380C>A (p.Asn460Lys) rs1322292807
NM_001122681.2(SH3BP2):c.13G>A (p.Glu5Lys)
NM_001122681.2(SH3BP2):c.1406+2T>A rs2108741609
NM_001122681.2(SH3BP2):c.1406+6C>T
NM_001122681.2(SH3BP2):c.1418C>G (p.Ala473Gly) rs2108742009
NM_001122681.2(SH3BP2):c.1421C>T (p.Thr474Ile) rs746860671
NM_001122681.2(SH3BP2):c.1425C>G (p.Ser475Arg)
NM_001122681.2(SH3BP2):c.1436A>G (p.Glu479Gly)
NM_001122681.2(SH3BP2):c.1437G>C (p.Glu479Asp) rs2108742039
NM_001122681.2(SH3BP2):c.1438C>G (p.Pro480Ala)
NM_001122681.2(SH3BP2):c.1439C>G (p.Pro480Arg) rs565191421
NM_001122681.2(SH3BP2):c.143T>C (p.Leu48Pro)
NM_001122681.2(SH3BP2):c.1445A>G (p.Asp482Gly)
NM_001122681.2(SH3BP2):c.1450C>G (p.Leu484Val) rs2108742062
NM_001122681.2(SH3BP2):c.1458C>A (p.Cys486Ter)
NM_001122681.2(SH3BP2):c.1503G>C (p.Trp501Cys)
NM_001122681.2(SH3BP2):c.1514C>T (p.Ser505Phe) rs144577122
NM_001122681.2(SH3BP2):c.1520A>G (p.Lys507Arg)
NM_001122681.2(SH3BP2):c.1521A>T (p.Lys507Asn) rs2108742930
NM_001122681.2(SH3BP2):c.1522G>A (p.Val508Met)
NM_001122681.2(SH3BP2):c.1523T>G (p.Val508Gly) rs2108742933
NM_001122681.2(SH3BP2):c.1524G>A (p.Val508=)
NM_001122681.2(SH3BP2):c.1554dup (p.Lys519Ter)
NM_001122681.2(SH3BP2):c.1585G>T (p.Val529Leu)
NM_001122681.2(SH3BP2):c.1589G>T (p.Ser530Ile)
NM_001122681.2(SH3BP2):c.1623C>G (p.His541Gln)
NM_001122681.2(SH3BP2):c.1641G>C (p.Gln547His) rs1030615203
NM_001122681.2(SH3BP2):c.1649T>G (p.Leu550Arg)
NM_001122681.2(SH3BP2):c.1654C>G (p.Arg552Gly) rs151048521
NM_001122681.2(SH3BP2):c.1654C>T (p.Arg552Trp) rs151048521
NM_001122681.2(SH3BP2):c.1661C>G (p.Pro554Arg) rs1725134312
NM_001122681.2(SH3BP2):c.1679C>T (p.Pro560Leu)
NM_001122681.2(SH3BP2):c.167G>T (p.Arg56Leu)
NM_001122681.2(SH3BP2):c.1682G>C (p.Arg561Thr)
NM_001122681.2(SH3BP2):c.172G>A (p.Val58Ile)
NM_001122681.2(SH3BP2):c.17del (p.Met6fs) rs746804160
NM_001122681.2(SH3BP2):c.194C>T (p.Thr65Ile)
NM_001122681.2(SH3BP2):c.199G>A (p.Ala67Thr) rs2108728412
NM_001122681.2(SH3BP2):c.1A>G (p.Met1Val)
NM_001122681.2(SH3BP2):c.205C>T (p.Pro69Ser)
NM_001122681.2(SH3BP2):c.228T>G (p.Ser76Arg)
NM_001122681.2(SH3BP2):c.230G>C (p.Gly77Ala)
NM_001122681.2(SH3BP2):c.240-1G>A rs1560106586
NM_001122681.2(SH3BP2):c.244A>T (p.Met82Leu)
NM_001122681.2(SH3BP2):c.248G>A (p.Arg83Gln)
NM_001122681.2(SH3BP2):c.24G>C (p.Trp8Cys)
NM_001122681.2(SH3BP2):c.279T>C (p.Val93=)
NM_001122681.2(SH3BP2):c.282C>G (p.Phe94Leu) rs1278859289
NM_001122681.2(SH3BP2):c.296T>A (p.Ile99Asn)
NM_001122681.2(SH3BP2):c.298C>T (p.His100Tyr)
NM_001122681.2(SH3BP2):c.305G>C (p.Ser102Thr) rs1484027719
NM_001122681.2(SH3BP2):c.320C>T (p.Thr107Met)
NM_001122681.2(SH3BP2):c.332C>T (p.Ser111Leu)
NM_001122681.2(SH3BP2):c.335C>T (p.Ala112Val)
NM_001122681.2(SH3BP2):c.341C>G (p.Ser114Cys) rs1724499985
NM_001122681.2(SH3BP2):c.341C>T (p.Ser114Phe)
NM_001122681.2(SH3BP2):c.343G>A (p.Glu115Lys) rs749467680
NM_001122681.2(SH3BP2):c.343_345delinsTCC (p.Glu115Ser)
NM_001122681.2(SH3BP2):c.357+14_357+15insTAGGACGAGTGCAAGGTGACTGGGGGTCC rs1326878343
NM_001122681.2(SH3BP2):c.357+6_357+7del
NM_001122681.2(SH3BP2):c.359G>A (p.Ser120Asn)
NM_001122681.2(SH3BP2):c.361T>A (p.Trp121Arg)
NM_001122681.2(SH3BP2):c.374T>A (p.Leu125Gln)
NM_001122681.2(SH3BP2):c.397C>A (p.His133Asn) rs1577360228
NM_001122681.2(SH3BP2):c.398A>C (p.His133Pro) rs886059355
NM_001122681.2(SH3BP2):c.411C>G (p.Asp137Glu)
NM_001122681.2(SH3BP2):c.416C>T (p.Pro139Leu)
NM_001122681.2(SH3BP2):c.432C>G (p.Asp144Glu)
NM_001122681.2(SH3BP2):c.457T>A (p.Tyr153Asn) rs1724717798
NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala)
NM_001122681.2(SH3BP2):c.476del (p.Pro159fs) rs2108735375
NM_001122681.2(SH3BP2):c.478G>C (p.Val160Leu) rs773270775
NM_001122681.2(SH3BP2):c.496C>T (p.Pro166Ser)
NM_001122681.2(SH3BP2):c.503C>G (p.Pro168Arg)
NM_001122681.2(SH3BP2):c.509del (p.Asp170fs) rs2108735431
NM_001122681.2(SH3BP2):c.566C>G (p.Pro189Arg) rs147001821
NM_001122681.2(SH3BP2):c.566C>T (p.Pro189Leu) rs147001821
NM_001122681.2(SH3BP2):c.568G>A (p.Glu190Lys) rs761070963
NM_001122681.2(SH3BP2):c.569A>C (p.Glu190Ala)
NM_001122681.2(SH3BP2):c.586G>T (p.Asp196Tyr)
NM_001122681.2(SH3BP2):c.587A>G (p.Asp196Gly) rs2108738351
NM_001122681.2(SH3BP2):c.619C>T (p.Pro207Ser)
NM_001122681.2(SH3BP2):c.620C>T (p.Pro207Leu) rs2108738398
NM_001122681.2(SH3BP2):c.643C>T (p.Pro215Ser)
NM_001122681.2(SH3BP2):c.655G>C (p.Asp219His)
NM_001122681.2(SH3BP2):c.661_710delinsAGAAGGGTG (p.Pro221fs)
NM_001122681.2(SH3BP2):c.665G>A (p.Arg222Gln)
NM_001122681.2(SH3BP2):c.67A>T (p.Met23Leu)
NM_001122681.2(SH3BP2):c.692C>T (p.Pro231Leu) rs1724859262
NM_001122681.2(SH3BP2):c.694G>A (p.Gly232Ser)
NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del)
NM_001122681.2(SH3BP2):c.707C>A (p.Pro236Gln)
NM_001122681.2(SH3BP2):c.707C>T (p.Pro236Leu) rs2108738526
NM_001122681.2(SH3BP2):c.716C>G (p.Pro239Arg)
NM_001122681.2(SH3BP2):c.71C>G (p.Pro24Arg) rs1724253944
NM_001122681.2(SH3BP2):c.749C>T (p.Ala250Val)
NM_001122681.2(SH3BP2):c.749_750delinsTG (p.Ala250Val)
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=) rs231399
NM_001122681.2(SH3BP2):c.754G>A (p.Glu252Lys) rs1308552287
NM_001122681.2(SH3BP2):c.761C>G (p.Ser254Cys)
NM_001122681.2(SH3BP2):c.787C>T (p.Arg263Trp) rs539765774
NM_001122681.2(SH3BP2):c.806G>C (p.Arg269Thr)
NM_001122681.2(SH3BP2):c.808G>A (p.Val270Ile)
NM_001122681.2(SH3BP2):c.814G>A (p.Ala272Thr)
NM_001122681.2(SH3BP2):c.81G>T (p.Val27=) rs745515987
NM_001122681.2(SH3BP2):c.821C>A (p.Pro274His)
NM_001122681.2(SH3BP2):c.821C>G (p.Pro274Arg) rs760547264
NM_001122681.2(SH3BP2):c.824G>A (p.Arg275Gln)
NM_001122681.2(SH3BP2):c.835G>A (p.Asp279Asn)
NM_001122681.2(SH3BP2):c.836A>G (p.Asp279Gly)
NM_001122681.2(SH3BP2):c.837T>A (p.Asp279Glu)
NM_001122681.2(SH3BP2):c.845T>A (p.Leu282Gln) rs766045804
NM_001122681.2(SH3BP2):c.868G>A (p.Gly290Ser) rs757550176
NM_001122681.2(SH3BP2):c.874C>G (p.Arg292Gly)
NM_001122681.2(SH3BP2):c.879A>C (p.Lys293Asn)
NM_001122681.2(SH3BP2):c.884C>T (p.Pro295Leu)
NM_001122681.2(SH3BP2):c.8C>T (p.Ala3Val)
NM_001122681.2(SH3BP2):c.908C>T (p.Pro303Leu)
NM_001122681.2(SH3BP2):c.946T>A (p.Ser316Thr)
NM_001122681.2(SH3BP2):c.959C>G (p.Ala320Gly) rs1724884429
NM_001122681.2(SH3BP2):c.968_973del (p.Met323_Ala324del)
NM_001122681.2(SH3BP2):c.977C>T (p.Ala326Val) rs2108739016
NM_001122681.2(SH3BP2):c.980C>T (p.Thr327Ile)
NM_001122681.2(SH3BP2):c.983C>G (p.Ser328Cys)
NM_001122681.2(SH3BP2):c.986G>A (p.Arg329Lys)
NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer) rs1171967366

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