ClinVar Miner

List of variants studied for Fibrous dysplasia of jaw by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 629
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.300T>C (p.His100=) rs3213501 0.79911
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=) rs231402 0.37216
NM_001122681.2(SH3BP2):c.417C>G (p.Pro139=) rs16843413 0.12378
NM_001122681.2(SH3BP2):c.586+8G>A rs28516876 0.11718
NM_001122681.2(SH3BP2):c.276C>T (p.Asn92=) rs140326137 0.01605
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) rs114926004 0.01089
NM_001122681.2(SH3BP2):c.171C>T (p.Cys57=) rs113748730 0.00794
NM_001122681.2(SH3BP2):c.1407-11T>A rs45525837 0.00513
NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val) rs35313240 0.00442
NM_001122681.2(SH3BP2):c.1332G>A (p.Ser444=) rs34668322 0.00326
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp) rs148761331 0.00261
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00115
NM_001122681.2(SH3BP2):c.1089T>C (p.Ala363=) rs138192611 0.00089
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042 0.00070
NM_001122681.2(SH3BP2):c.1241+20G>T rs371677381 0.00065
NM_001122681.2(SH3BP2):c.239G>A (p.Arg80Gln) rs147432096 0.00061
NM_001122681.2(SH3BP2):c.441G>A (p.Ser147=) rs145235325 0.00061
NM_001122681.2(SH3BP2):c.643C>A (p.Pro215Thr) rs139934973 0.00058
NM_001122681.2(SH3BP2):c.1549-12C>A rs202005559 0.00054
NM_001122681.2(SH3BP2):c.1351-16C>T rs200781117 0.00050
NM_001122681.2(SH3BP2):c.1151G>A (p.Arg384Gln) rs143129053 0.00042
NM_001122681.2(SH3BP2):c.1122C>T (p.Pro374=) rs149122170 0.00037
NM_001122681.2(SH3BP2):c.543C>T (p.Asp181=) rs201371505 0.00029
NM_001122681.2(SH3BP2):c.1366T>C (p.Ser456Pro) rs145949614 0.00026
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) rs200156713 0.00025
NM_001122681.2(SH3BP2):c.1141G>A (p.Val381Met) rs201966956 0.00023
NM_001122681.2(SH3BP2):c.1506C>T (p.Asp502=) rs201310624 0.00023
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) rs141262371 0.00022
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) rs200463050 0.00016
NM_001122681.2(SH3BP2):c.459C>T (p.Tyr153=) rs200183258 0.00015
NM_001122681.2(SH3BP2):c.79G>A (p.Val27Met) rs200207198 0.00015
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) rs375094936 0.00014
NM_001122681.2(SH3BP2):c.1241+15C>T rs367551850 0.00014
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) rs199818232 0.00014
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) rs374608155 0.00014
NM_001122681.2(SH3BP2):c.1386G>A (p.Thr462=) rs139409304 0.00013
NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=) rs774809755 0.00012
NM_001122681.2(SH3BP2):c.1320C>T (p.Gly440=) rs769046491 0.00011
NM_001122681.2(SH3BP2):c.1385C>T (p.Thr462Met) rs201536400 0.00011
NM_001122681.2(SH3BP2):c.724del (p.His242fs) rs747250901 0.00011
NM_001122681.2(SH3BP2):c.81G>A (p.Val27=) rs745515987 0.00011
NM_001122681.2(SH3BP2):c.1395C>T (p.Cys465=) rs150049888 0.00010
NM_001122681.2(SH3BP2):c.518-15C>G rs147331573 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.1294C>T (p.Arg432Trp) rs373894173 0.00009
NM_001122681.2(SH3BP2):c.1407-19T>C rs754090078 0.00009
NM_001122681.2(SH3BP2):c.1481C>T (p.Ser494Leu) rs377411211 0.00009
NM_001122681.2(SH3BP2):c.1488+6C>T rs548212932 0.00009
NM_001122681.2(SH3BP2):c.1624G>A (p.Val542Met) rs201983777 0.00009
NM_001122681.2(SH3BP2):c.1665C>T (p.Tyr555=) rs368135013 0.00009
NM_001122681.2(SH3BP2):c.587-3C>A rs368839407 0.00009
NM_001122681.2(SH3BP2):c.1406+14C>A rs375493267 0.00008
NM_001122681.2(SH3BP2):c.357+17G>A rs370698624 0.00008
NM_001122681.2(SH3BP2):c.655G>C (p.Asp219His) rs141725012 0.00008
NM_001122681.2(SH3BP2):c.867C>T (p.Pro289=) rs151102529 0.00008
NM_001122681.2(SH3BP2):c.1005G>T (p.Lys335Asn) rs1409775615 0.00007
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp) rs529543434 0.00007
NM_001122681.2(SH3BP2):c.1208C>T (p.Pro403Leu) rs1327801615 0.00007
NM_001122681.2(SH3BP2):c.1350+6G>A rs766189842 0.00007
NM_001122681.2(SH3BP2):c.1489-15G>A rs375344873 0.00007
NM_001122681.2(SH3BP2):c.240-16G>A rs752456141 0.00007
NM_001122681.2(SH3BP2):c.1192C>T (p.Arg398Trp) rs745563984 0.00006
NM_001122681.2(SH3BP2):c.1197C>T (p.Pro399=) rs746578391 0.00006
NM_001122681.2(SH3BP2):c.1242-16C>T rs376407420 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.513T>C (p.Asn171=) rs375149081 0.00006
NM_001122681.2(SH3BP2):c.1190C>T (p.Ala397Val) rs527342066 0.00005
NM_001122681.2(SH3BP2):c.1198G>A (p.Ala400Thr) rs768146888 0.00005
NM_001122681.2(SH3BP2):c.1232C>T (p.Pro411Leu) rs376008602 0.00005
NM_001122681.2(SH3BP2):c.1489-16C>T rs568904047 0.00005
NM_001122681.2(SH3BP2):c.1507G>A (p.Glu503Lys) rs767658389 0.00005
NM_001122681.2(SH3BP2):c.1644C>T (p.Ser548=) rs145346010 0.00005
NM_001122681.2(SH3BP2):c.1666G>A (p.Gly556Ser) rs201197278 0.00005
NM_001122681.2(SH3BP2):c.247C>A (p.Arg83=) rs139626310 0.00005
NM_001122681.2(SH3BP2):c.429-10T>C rs371090009 0.00005
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) rs150461713 0.00005
NM_001122681.2(SH3BP2):c.512A>G (p.Asn171Ser) rs143236581 0.00005
NM_001122681.2(SH3BP2):c.587-20C>T rs112730511 0.00005
NM_001122681.2(SH3BP2):c.1326C>T (p.Asp442=) rs761864704 0.00004
NM_001122681.2(SH3BP2):c.1331C>T (p.Ser444Leu) rs137947663 0.00004
NM_001122681.2(SH3BP2):c.1351-15G>A rs374658620 0.00004
NM_001122681.2(SH3BP2):c.1488+7G>A rs113327530 0.00004
NM_001122681.2(SH3BP2):c.1489-5T>C rs765618391 0.00004
NM_001122681.2(SH3BP2):c.1549-7C>T rs148481218 0.00004
NM_001122681.2(SH3BP2):c.1573G>A (p.Glu525Lys) rs142735744 0.00004
NM_001122681.2(SH3BP2):c.239+19T>C rs573351563 0.00004
NM_001122681.2(SH3BP2):c.491T>G (p.Leu164Arg) rs774240293 0.00004
NM_001122681.2(SH3BP2):c.517+15C>T rs755317801 0.00004
NM_001122681.2(SH3BP2):c.694G>A (p.Gly232Ser) rs868684244 0.00004
NM_001122681.2(SH3BP2):c.6G>A (p.Ala2=) rs376112456 0.00004
NM_001122681.2(SH3BP2):c.821C>A (p.Pro274His) rs760547264 0.00004
NM_001122681.2(SH3BP2):c.947C>T (p.Ser316Phe) rs1235042756 0.00004
NM_001122681.2(SH3BP2):c.1102C>T (p.Pro368Ser) rs780642536 0.00003
NM_001122681.2(SH3BP2):c.1135C>T (p.Pro379Ser) rs759054470 0.00003
NM_001122681.2(SH3BP2):c.1140C>T (p.Pro380=) rs771636100 0.00003
NM_001122681.2(SH3BP2):c.1230C>T (p.Leu410=) rs759924672 0.00003
NM_001122681.2(SH3BP2):c.1233G>A (p.Pro411=) rs752967350 0.00003
NM_001122681.2(SH3BP2):c.1281C>T (p.Ser427=) rs369710768 0.00003
NM_001122681.2(SH3BP2):c.1295G>A (p.Arg432Gln) rs200226629 0.00003
NM_001122681.2(SH3BP2):c.1321G>A (p.Gly441Arg) rs146202519 0.00003
NM_001122681.2(SH3BP2):c.1335C>T (p.Asp445=) rs762896248 0.00003
NM_001122681.2(SH3BP2):c.1351-10C>A rs556659893 0.00003
NM_001122681.2(SH3BP2):c.1351-13C>T rs367963191 0.00003
NM_001122681.2(SH3BP2):c.1353G>A (p.Val451=) rs753438613 0.00003
NM_001122681.2(SH3BP2):c.1374C>T (p.Phe458=) rs748346628 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.240-14C>T rs763517516 0.00003
NM_001122681.2(SH3BP2):c.252G>A (p.Ala84=) rs149515000 0.00003
NM_001122681.2(SH3BP2):c.321G>A (p.Thr107=) rs140178337 0.00003
NM_001122681.2(SH3BP2):c.39G>A (p.Lys13=) rs752692422 0.00003
NM_001122681.2(SH3BP2):c.410A>G (p.Asp137Gly) rs777468144 0.00003
NM_001122681.2(SH3BP2):c.411C>G (p.Asp137Glu) rs1220532993 0.00003
NM_001122681.2(SH3BP2):c.428+8C>T rs777175847 0.00003
NM_001122681.2(SH3BP2):c.428+9G>A rs113416255 0.00003
NM_001122681.2(SH3BP2):c.429-16G>A rs528073383 0.00003
NM_001122681.2(SH3BP2):c.429-17C>T rs768724083 0.00003
NM_001122681.2(SH3BP2):c.453C>T (p.Ser151=) rs113144616 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.518-6A>G rs757391759 0.00003
NM_001122681.2(SH3BP2):c.528C>T (p.His176=) rs138986397 0.00003
NM_001122681.2(SH3BP2):c.606G>A (p.Pro202=) rs775926639 0.00003
NM_001122681.2(SH3BP2):c.628C>T (p.Pro210Ser) rs777085450 0.00003
NM_001122681.2(SH3BP2):c.664C>T (p.Arg222Trp) rs201459890 0.00003
NM_001122681.2(SH3BP2):c.703C>T (p.Leu235=) rs1470194215 0.00003
NM_001122681.2(SH3BP2):c.713C>T (p.Pro238Leu) rs369270340 0.00003
NM_001122681.2(SH3BP2):c.861C>T (p.Thr287=) rs376641544 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.990C>T (p.Asn330=) rs769722266 0.00003
NM_001122681.2(SH3BP2):c.1117A>G (p.Met373Val) rs1242360913 0.00002
NM_001122681.2(SH3BP2):c.1157C>T (p.Pro386Leu) rs373415147 0.00002
NM_001122681.2(SH3BP2):c.1160C>T (p.Ala387Val) rs372762732 0.00002
NM_001122681.2(SH3BP2):c.1187T>C (p.Met396Thr) rs749171361 0.00002
NM_001122681.2(SH3BP2):c.1254C>T (p.Pro418=) rs201959118 0.00002
NM_001122681.2(SH3BP2):c.1327G>A (p.Asp443Asn) rs907019445 0.00002
NM_001122681.2(SH3BP2):c.1350+12C>T rs372590140 0.00002
NM_001122681.2(SH3BP2):c.1368G>A (p.Ser456=) rs781567345 0.00002
NM_001122681.2(SH3BP2):c.137-11A>G rs759834339 0.00002
NM_001122681.2(SH3BP2):c.1448G>C (p.Gly483Ala) rs748160727 0.00002
NM_001122681.2(SH3BP2):c.1485G>A (p.Gly495=) rs546812362 0.00002
NM_001122681.2(SH3BP2):c.1489-9G>A rs777133458 0.00002
NM_001122681.2(SH3BP2):c.1534C>T (p.Arg512Cys) rs369562627 0.00002
NM_001122681.2(SH3BP2):c.1549-14C>T rs1262399777 0.00002
NM_001122681.2(SH3BP2):c.1623C>T (p.His541=) rs779748713 0.00002
NM_001122681.2(SH3BP2):c.207G>A (p.Pro69=) rs1017260878 0.00002
NM_001122681.2(SH3BP2):c.248G>A (p.Arg83Gln) rs776318503 0.00002
NM_001122681.2(SH3BP2):c.32C>T (p.Pro11Leu) rs751798471 0.00002
NM_001122681.2(SH3BP2):c.358-13C>T rs199799999 0.00002
NM_001122681.2(SH3BP2):c.416C>T (p.Pro139Leu) rs539701566 0.00002
NM_001122681.2(SH3BP2):c.498G>A (p.Pro166=) rs767239929 0.00002
NM_001122681.2(SH3BP2):c.506C>T (p.Thr169Met) rs201786792 0.00002
NM_001122681.2(SH3BP2):c.560A>G (p.Asp187Gly) rs753681184 0.00002
NM_001122681.2(SH3BP2):c.567G>A (p.Pro189=) rs1416781918 0.00002
NM_001122681.2(SH3BP2):c.574G>A (p.Gly192Arg) rs765339575 0.00002
NM_001122681.2(SH3BP2):c.586+12G>A rs754776722 0.00002
NM_001122681.2(SH3BP2):c.632C>T (p.Thr211Met) rs375942374 0.00002
NM_001122681.2(SH3BP2):c.644C>G (p.Pro215Arg) rs201983881 0.00002
NM_001122681.2(SH3BP2):c.688G>T (p.Gly230Cys) rs769244623 0.00002
NM_001122681.2(SH3BP2):c.714G>A (p.Pro238=) rs369981092 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.849C>T (p.Ser283=) rs750082688 0.00002
NM_001122681.2(SH3BP2):c.874C>T (p.Arg292Trp) rs746025620 0.00002
NM_001122681.2(SH3BP2):c.1007C>T (p.Ser336Phe) rs773105147 0.00001
NM_001122681.2(SH3BP2):c.1024C>T (p.Arg342Ter) rs374788058 0.00001
NM_001122681.2(SH3BP2):c.1039T>C (p.Ser347Pro) rs1274772239 0.00001
NM_001122681.2(SH3BP2):c.1052C>G (p.Pro351Arg) rs1724890588 0.00001
NM_001122681.2(SH3BP2):c.1056G>A (p.Val352=) rs1257654174 0.00001
NM_001122681.2(SH3BP2):c.1097A>G (p.Asp366Gly) rs1453717053 0.00001
NM_001122681.2(SH3BP2):c.1098C>T (p.Asp366=) rs751722349 0.00001
NM_001122681.2(SH3BP2):c.1103C>A (p.Pro368Gln) rs781072584 0.00001
NM_001122681.2(SH3BP2):c.1125A>G (p.Gly375=) rs770845820 0.00001
NM_001122681.2(SH3BP2):c.1133T>C (p.Val378Ala) rs774058201 0.00001
NM_001122681.2(SH3BP2):c.114T>C (p.Gly38=) rs766841076 0.00001
NM_001122681.2(SH3BP2):c.1161G>A (p.Ala387=) rs755103787 0.00001
NM_001122681.2(SH3BP2):c.1164G>A (p.Leu388=) rs148233601 0.00001
NM_001122681.2(SH3BP2):c.1169T>C (p.Leu390Pro) rs568178509 0.00001
NM_001122681.2(SH3BP2):c.1191G>A (p.Ala397=) rs778524532 0.00001
NM_001122681.2(SH3BP2):c.1216G>C (p.Glu406Gln) rs763389806 0.00001
NM_001122681.2(SH3BP2):c.1223C>T (p.Pro408Leu) rs766786069 0.00001
NM_001122681.2(SH3BP2):c.1224G>A (p.Pro408=) rs774621888 0.00001
NM_001122681.2(SH3BP2):c.1234C>T (p.His412Tyr) rs764213233 0.00001
NM_001122681.2(SH3BP2):c.1239C>T (p.Leu413=) rs957454698 0.00001
NM_001122681.2(SH3BP2):c.1242-12C>T rs1204458649 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.1296G>A (p.Arg432=) rs746328424 0.00001
NM_001122681.2(SH3BP2):c.1300C>T (p.Pro434Ser) rs1159129109 0.00001
NM_001122681.2(SH3BP2):c.1343A>T (p.Tyr448Phe) rs1291034009 0.00001
NM_001122681.2(SH3BP2):c.1345_1347del (p.Glu449del) rs1724993599 0.00001
NM_001122681.2(SH3BP2):c.1350+13G>A rs1298865871 0.00001
NM_001122681.2(SH3BP2):c.1382C>T (p.Thr461Ile) rs773282036 0.00001
NM_001122681.2(SH3BP2):c.1392C>T (p.Ser464=) rs1221523656 0.00001
NM_001122681.2(SH3BP2):c.1396G>A (p.Glu466Lys) rs946632787 0.00001
NM_001122681.2(SH3BP2):c.13G>A (p.Glu5Lys) rs750753010 0.00001
NM_001122681.2(SH3BP2):c.1406+6C>T rs1395878884 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.1438C>G (p.Pro480Ala) rs753270805 0.00001
NM_001122681.2(SH3BP2):c.143T>C (p.Leu48Pro) rs760711223 0.00001
NM_001122681.2(SH3BP2):c.1440C>G (p.Pro480=) rs761047234 0.00001
NM_001122681.2(SH3BP2):c.1457G>A (p.Cys486Tyr) rs1725036218 0.00001
NM_001122681.2(SH3BP2):c.1461C>T (p.Ile487=) rs1278262490 0.00001
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) rs373554386 0.00001
NM_001122681.2(SH3BP2):c.1482G>A (p.Ser494=) rs150716030 0.00001
NM_001122681.2(SH3BP2):c.1488G>A (p.Lys496=) rs748012203 0.00001
NM_001122681.2(SH3BP2):c.1489-10C>T rs371550124 0.00001
NM_001122681.2(SH3BP2):c.1503G>C (p.Trp501Cys) rs1725079013 0.00001
NM_001122681.2(SH3BP2):c.1524G>A (p.Val508=) rs749099956 0.00001
NM_001122681.2(SH3BP2):c.1548+9G>T rs774937817 0.00001
NM_001122681.2(SH3BP2):c.1549-6C>G rs1232849407 0.00001
NM_001122681.2(SH3BP2):c.1554dup (p.Lys519Ter) rs1725126985 0.00001
NM_001122681.2(SH3BP2):c.1574A>G (p.Glu525Gly) rs1172008192 0.00001
NM_001122681.2(SH3BP2):c.1576G>T (p.Val526Phe) rs1425874075 0.00001
NM_001122681.2(SH3BP2):c.1589G>T (p.Ser530Ile) rs767878434 0.00001
NM_001122681.2(SH3BP2):c.1608G>A (p.Glu536=) rs750263899 0.00001
NM_001122681.2(SH3BP2):c.160C>A (p.His54Asn) rs765023340 0.00001
NM_001122681.2(SH3BP2):c.1620C>T (p.Thr540=) rs758175007 0.00001
NM_001122681.2(SH3BP2):c.1647G>A (p.Leu549=) rs547700606 0.00001
NM_001122681.2(SH3BP2):c.1656G>A (p.Arg552=) rs1457574966 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.1682G>C (p.Arg561Thr) rs1725135863 0.00001
NM_001122681.2(SH3BP2):c.1683G>A (p.Arg561=) rs761772844 0.00001
NM_001122681.2(SH3BP2):c.174C>T (p.Val58=) rs749816726 0.00001
NM_001122681.2(SH3BP2):c.17del (p.Met6fs) rs746804160 0.00001
NM_001122681.2(SH3BP2):c.206C>T (p.Pro69Leu) rs775642148 0.00001
NM_001122681.2(SH3BP2):c.213C>T (p.Gly71=) rs553536573 0.00001
NM_001122681.2(SH3BP2):c.221C>T (p.Ser74Phe) rs532591178 0.00001
NM_001122681.2(SH3BP2):c.225G>C (p.Leu75=) rs142944605 0.00001
NM_001122681.2(SH3BP2):c.228T>G (p.Ser76Arg) rs1724392521 0.00001
NM_001122681.2(SH3BP2):c.238C>T (p.Arg80Trp) rs372066896 0.00001
NM_001122681.2(SH3BP2):c.239+10C>T rs780878297 0.00001
NM_001122681.2(SH3BP2):c.241G>T (p.Val81Leu) rs758854321 0.00001
NM_001122681.2(SH3BP2):c.267G>A (p.Thr89=) rs748371031 0.00001
NM_001122681.2(SH3BP2):c.296T>A (p.Ile99Asn) rs548574112 0.00001
NM_001122681.2(SH3BP2):c.298C>T (p.His100Tyr) rs745787410 0.00001
NM_001122681.2(SH3BP2):c.316C>T (p.Arg106Cys) rs760277294 0.00001
NM_001122681.2(SH3BP2):c.320C>T (p.Thr107Met) rs368951667 0.00001
NM_001122681.2(SH3BP2):c.330C>T (p.Phe110=) rs764725571 0.00001
NM_001122681.2(SH3BP2):c.332C>T (p.Ser111Leu) rs752071353 0.00001
NM_001122681.2(SH3BP2):c.333G>A (p.Ser111=) rs554077647 0.00001
NM_001122681.2(SH3BP2):c.341C>T (p.Ser114Phe) rs1724499985 0.00001
NM_001122681.2(SH3BP2):c.342C>T (p.Ser114=) rs1135633 0.00001
NM_001122681.2(SH3BP2):c.353G>A (p.Arg118His) rs772096716 0.00001
NM_001122681.2(SH3BP2):c.357+20C>T rs753112709 0.00001
NM_001122681.2(SH3BP2):c.358-12G>A rs758622287 0.00001
NM_001122681.2(SH3BP2):c.359G>A (p.Ser120Asn) rs1480761379 0.00001
NM_001122681.2(SH3BP2):c.399C>T (p.His133=) rs747940067 0.00001
NM_001122681.2(SH3BP2):c.400G>A (p.Glu134Lys) rs769545519 0.00001
NM_001122681.2(SH3BP2):c.428+16G>C rs898264078 0.00001
NM_001122681.2(SH3BP2):c.428+1G>C rs769264475 0.00001
NM_001122681.2(SH3BP2):c.429-15C>T rs748054388 0.00001
NM_001122681.2(SH3BP2):c.429C>G (p.Ser143Arg) rs140532510 0.00001
NM_001122681.2(SH3BP2):c.432C>G (p.Asp144Glu) rs1376901365 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.477T>C (p.Pro159=) rs1189514551 0.00001
NM_001122681.2(SH3BP2):c.517+16G>A rs781538730 0.00001
NM_001122681.2(SH3BP2):c.518-19C>T rs766907808 0.00001
NM_001122681.2(SH3BP2):c.527A>G (p.His176Arg) rs779050688 0.00001
NM_001122681.2(SH3BP2):c.531C>T (p.Asp177=) rs143009181 0.00001
NM_001122681.2(SH3BP2):c.555G>A (p.Glu185=) rs370396181 0.00001
NM_001122681.2(SH3BP2):c.569A>C (p.Glu190Ala) rs956936364 0.00001
NM_001122681.2(SH3BP2):c.573C>T (p.Pro191=) rs755387801 0.00001
NM_001122681.2(SH3BP2):c.586+11C>T rs367949083 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.633G>A (p.Thr211=) rs201465814 0.00001
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) rs150572069 0.00001
NM_001122681.2(SH3BP2):c.693C>T (p.Pro231=) rs748570052 0.00001
NM_001122681.2(SH3BP2):c.749C>T (p.Ala250Val) rs759582599 0.00001
NM_001122681.2(SH3BP2):c.756G>A (p.Glu252=) rs760531065 0.00001
NM_001122681.2(SH3BP2):c.760T>C (p.Ser254Pro) rs1211847666 0.00001
NM_001122681.2(SH3BP2):c.765G>A (p.Lys255=) rs1259759373 0.00001
NM_001122681.2(SH3BP2):c.771C>G (p.Asp257Glu) rs753445987 0.00001
NM_001122681.2(SH3BP2):c.78C>T (p.Gly26=) rs770692755 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.814G>A (p.Ala272Thr) rs1366943959 0.00001
NM_001122681.2(SH3BP2):c.823C>T (p.Arg275Ter) rs1282774369 0.00001
NM_001122681.2(SH3BP2):c.824G>A (p.Arg275Gln) rs776446250 0.00001
NM_001122681.2(SH3BP2):c.835G>A (p.Asp279Asn) rs764985576 0.00001
NM_001122681.2(SH3BP2):c.845T>A (p.Leu282Gln) rs766045804 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.894G>A (p.Arg298=) rs547957534 0.00001
NM_001122681.2(SH3BP2):c.927C>T (p.Thr309=) rs192098170 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.936C>T (p.His312=) rs371241038 0.00001
NM_001122681.2(SH3BP2):c.944G>C (p.Cys315Ser) rs1312017070 0.00001
NM_001122681.2(SH3BP2):c.96C>T (p.Tyr32=) rs375419257 0.00001
NM_001122681.2(SH3BP2):c.983C>G (p.Ser328Cys) rs1724885887 0.00001
NM_001122681.2(SH3BP2):c.986G>A (p.Arg329Lys) rs747966569 0.00001
NC_000004.11:g.(?_2822345)_(2822500_?)del
NC_000004.11:g.(?_2822345)_(2822500_?)dup
NC_000004.11:g.(?_2822345)_(2826943_?)dup
NC_000004.11:g.(?_493125)_(3495228_?)del
NC_000004.11:g.(?_493125)_(3495228_?)dup
NC_000004.12:g.(?_2059492)_(2833854_?)del
NC_000004.12:g.(?_2812378)_(2820773_?)dup
NM_001122681.2(SH3BP2):c.1008C>T (p.Ser336=) rs1724887772
NM_001122681.2(SH3BP2):c.1013A>T (p.His338Leu)
NM_001122681.2(SH3BP2):c.1025G>A (p.Arg342Gln)
NM_001122681.2(SH3BP2):c.1030C>T (p.Pro344Ser)
NM_001122681.2(SH3BP2):c.1031C>A (p.Pro344Gln)
NM_001122681.2(SH3BP2):c.1032A>G (p.Pro344=) rs2530350561
NM_001122681.2(SH3BP2):c.1033C>G (p.Pro345Ala) rs1317170986
NM_001122681.2(SH3BP2):c.1045C>T (p.Pro349Ser) rs2530350611
NM_001122681.2(SH3BP2):c.1049C>G (p.Pro350Arg) rs762177276
NM_001122681.2(SH3BP2):c.1061C>A (p.Ala354Asp) rs1016515984
NM_001122681.2(SH3BP2):c.1061C>T (p.Ala354Val) rs1016515984
NM_001122681.2(SH3BP2):c.1071C>T (p.Pro357=) rs1187541289
NM_001122681.2(SH3BP2):c.1084A>G (p.Ile362Val) rs1437832400
NM_001122681.2(SH3BP2):c.1085T>C (p.Ile362Thr)
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) rs2530350972
NM_001122681.2(SH3BP2):c.1113A>T (p.Ala371=)
NM_001122681.2(SH3BP2):c.1115C>T (p.Ala372Val)
NM_001122681.2(SH3BP2):c.1118T>C (p.Met373Thr) rs1349531722
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) rs773829474
NM_001122681.2(SH3BP2):c.1130T>C (p.Phe377Ser) rs1724895905
NM_001122681.2(SH3BP2):c.1131T>C (p.Phe377=) rs1193342545
NM_001122681.2(SH3BP2):c.1132G>T (p.Val378Leu) rs1724896293
NM_001122681.2(SH3BP2):c.1137C>T (p.Pro379=) rs1724897201
NM_001122681.2(SH3BP2):c.1140dup (p.Val381fs) rs759199606
NM_001122681.2(SH3BP2):c.1145C>G (p.Ala382Gly) rs2530351179
NM_001122681.2(SH3BP2):c.1153CCT[1] (p.Pro386del) rs1303791404
NM_001122681.2(SH3BP2):c.1154C>T (p.Pro385Leu) rs763371314
NM_001122681.2(SH3BP2):c.1160C>G (p.Ala387Gly)
NM_001122681.2(SH3BP2):c.1172C>T (p.Pro391Leu) rs756254370
NM_001122681.2(SH3BP2):c.1175T>C (p.Val392Ala) rs2108739303
NM_001122681.2(SH3BP2):c.1177C>T (p.Pro393Ser) rs1254015154
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) rs1724900953
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.1206G>A (p.Leu402=) rs1560111558
NM_001122681.2(SH3BP2):c.1208C>G (p.Pro403Arg)
NM_001122681.2(SH3BP2):c.1209C>T (p.Pro403=) rs1033052376
NM_001122681.2(SH3BP2):c.1221G>A (p.Lys407=) rs1333422072
NM_001122681.2(SH3BP2):c.1230C>G (p.Leu410=)
NM_001122681.2(SH3BP2):c.1233G>T (p.Pro411=) rs752967350
NM_001122681.2(SH3BP2):c.1241+10T>C rs778876594
NM_001122681.2(SH3BP2):c.1241+16G>A rs1294466954
NM_001122681.2(SH3BP2):c.1242-7C>T rs2530356739
NM_001122681.2(SH3BP2):c.1242-8C>A
NM_001122681.2(SH3BP2):c.1244G>A (p.Arg415Gln) rs121909149
NM_001122681.2(SH3BP2):c.1244G>C (p.Arg415Pro) rs121909149
NM_001122681.2(SH3BP2):c.1244G>T (p.Arg415Leu) rs121909149
NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr) rs757336022
NM_001122681.2(SH3BP2):c.1252C>G (p.Pro418Ala) rs757336022
NM_001122681.2(SH3BP2):c.1253C>A (p.Pro418His) rs121909146
NM_001122681.2(SH3BP2):c.1253C>G (p.Pro418Arg) rs121909146
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu) rs121909146
NM_001122681.2(SH3BP2):c.1254dup (p.Asp419fs) rs752422406
NM_001122681.2(SH3BP2):c.1258G>A (p.Gly420Arg) rs28938170
NM_001122681.2(SH3BP2):c.1258G>T (p.Gly420Trp) rs28938170
NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu) rs28938171
NM_001122681.2(SH3BP2):c.125A>C (p.Gln42Pro) rs2530312581
NM_001122681.2(SH3BP2):c.1260G>C (p.Gly420=)
NM_001122681.2(SH3BP2):c.1261C>T (p.Gln421Ter) rs2530356924
NM_001122681.2(SH3BP2):c.1264_1265del (p.Ser422fs) rs1724988286
NM_001122681.2(SH3BP2):c.1273A>G (p.Ser425Gly)
NM_001122681.2(SH3BP2):c.1275C>A (p.Ser425Arg) rs972728940
NM_001122681.2(SH3BP2):c.1280_1282del (p.Ser427del) rs771719677
NM_001122681.2(SH3BP2):c.1291C>A (p.Pro431Thr) rs1486769271
NM_001122681.2(SH3BP2):c.1293C>G (p.Pro431=) rs780803809
NM_001122681.2(SH3BP2):c.1299A>C (p.Gln433His) rs886059357
NM_001122681.2(SH3BP2):c.1310C>G (p.Ala437Gly)
NM_001122681.2(SH3BP2):c.1310C>T (p.Ala437Val) rs1724990757
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.1332G>C (p.Ser444=) rs34668322
NM_001122681.2(SH3BP2):c.1341C>T (p.Asp447=)
NM_001122681.2(SH3BP2):c.1342T>C (p.Tyr448His) rs1473887092
NM_001122681.2(SH3BP2):c.1343A>C (p.Tyr448Ser) rs1291034009
NM_001122681.2(SH3BP2):c.1350+15C>G
NM_001122681.2(SH3BP2):c.1350+9G>C
NM_001122681.2(SH3BP2):c.136+14del rs1270540232
NM_001122681.2(SH3BP2):c.136+17G>A
NM_001122681.2(SH3BP2):c.136+19_136+23del
NM_001122681.2(SH3BP2):c.136+5G>A rs777738094
NM_001122681.2(SH3BP2):c.137-10C>T
NM_001122681.2(SH3BP2):c.137-14_137-13delinsAT
NM_001122681.2(SH3BP2):c.137-7C>T rs767584072
NM_001122681.2(SH3BP2):c.1371C>G (p.Val457=) rs2530358861
NM_001122681.2(SH3BP2):c.1375G>A (p.Val459Ile)
NM_001122681.2(SH3BP2):c.1380C>A (p.Asn460Lys) rs1322292807
NM_001122681.2(SH3BP2):c.1383C>G (p.Thr461=) rs2108741581
NM_001122681.2(SH3BP2):c.1386G>T (p.Thr462=) rs139409304
NM_001122681.2(SH3BP2):c.1406+11A>G rs1156832365
NM_001122681.2(SH3BP2):c.1406+15C>G rs753427446
NM_001122681.2(SH3BP2):c.1406+18T>C
NM_001122681.2(SH3BP2):c.1406+2T>A rs2108741609
NM_001122681.2(SH3BP2):c.1407-12_1407-11del rs765712961
NM_001122681.2(SH3BP2):c.1416G>A (p.Lys472=) rs201375256
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) rs768514069
NM_001122681.2(SH3BP2):c.1425C>T (p.Ser475=) rs768514069
NM_001122681.2(SH3BP2):c.1436A>G (p.Glu479Gly) rs2530360996
NM_001122681.2(SH3BP2):c.1437G>C (p.Glu479Asp) rs2108742039
NM_001122681.2(SH3BP2):c.1439C>G (p.Pro480Arg) rs565191421
NM_001122681.2(SH3BP2):c.1445A>G (p.Asp482Gly) rs1269839699
NM_001122681.2(SH3BP2):c.1450C>G (p.Leu484Val) rs2108742062
NM_001122681.2(SH3BP2):c.1458C>A (p.Cys486Ter) rs779176327
NM_001122681.2(SH3BP2):c.1488+1_1488+17dup
NM_001122681.2(SH3BP2):c.1488+7G>T rs113327530
NM_001122681.2(SH3BP2):c.1488+9C>T rs1577371649
NM_001122681.2(SH3BP2):c.1489-4G>A rs773486194
NM_001122681.2(SH3BP2):c.1489-6C>T rs762256499
NM_001122681.2(SH3BP2):c.1491C>G (p.Val497=) rs2530364054
NM_001122681.2(SH3BP2):c.1496T>C (p.Val499Ala)
NM_001122681.2(SH3BP2):c.1496T>G (p.Val499Gly) rs751799854
NM_001122681.2(SH3BP2):c.1500G>A (p.Val500=) rs2108742910
NM_001122681.2(SH3BP2):c.1514C>T (p.Ser505Phe) rs144577122
NM_001122681.2(SH3BP2):c.1518C>T (p.Asn506=) rs1577372648
NM_001122681.2(SH3BP2):c.1520A>G (p.Lys507Arg) rs2530364159
NM_001122681.2(SH3BP2):c.1521A>T (p.Lys507Asn) rs2108742930
NM_001122681.2(SH3BP2):c.1522G>A (p.Val508Met) rs2530364169
NM_001122681.2(SH3BP2):c.1523T>G (p.Val508Gly) rs2108742933
NM_001122681.2(SH3BP2):c.1528A>G (p.Asn510Asp)
NM_001122681.2(SH3BP2):c.1548+20G>T rs2108742974
NM_001122681.2(SH3BP2):c.1549-15del rs755108939
NM_001122681.2(SH3BP2):c.1549-19C>G rs1449962815
NM_001122681.2(SH3BP2):c.1549-19_1549-17del rs747109967
NM_001122681.2(SH3BP2):c.1549-5dup rs781203929
NM_001122681.2(SH3BP2):c.1549-9_1549-8delinsAA rs2108743656
NM_001122681.2(SH3BP2):c.1566G>A (p.Leu522=) rs1725127760
NM_001122681.2(SH3BP2):c.1572C>T (p.Gly524=) rs568983571
NM_001122681.2(SH3BP2):c.1584T>C (p.Phe528=)
NM_001122681.2(SH3BP2):c.1585G>C (p.Val529Leu)
NM_001122681.2(SH3BP2):c.1585G>T (p.Val529Leu) rs764179076
NM_001122681.2(SH3BP2):c.1593G>C (p.Val531=) rs1577373797
NM_001122681.2(SH3BP2):c.1596C>T (p.Gly532=) rs1577373806
NM_001122681.2(SH3BP2):c.1611C>T (p.His537=) rs1221401911
NM_001122681.2(SH3BP2):c.1623C>G (p.His541Gln) rs779748713
NM_001122681.2(SH3BP2):c.1635C>T (p.Ser545=) rs991116909
NM_001122681.2(SH3BP2):c.1641G>C (p.Gln547His) rs1030615203
NM_001122681.2(SH3BP2):c.1649T>G (p.Leu550Arg) rs2530367571
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.1662C>T (p.Pro554=) rs775871629
NM_001122681.2(SH3BP2):c.1664A>G (p.Tyr555Cys)
NM_001122681.2(SH3BP2):c.1668C>A (p.Gly556=) rs2108743851
NM_001122681.2(SH3BP2):c.1669T>C (p.Tyr557His)
NM_001122681.2(SH3BP2):c.1676G>T (p.Gly559Val)
NM_001122681.2(SH3BP2):c.1679C>T (p.Pro560Leu) rs1577373982
NM_001122681.2(SH3BP2):c.167G>T (p.Arg56Leu) rs779608979
NM_001122681.2(SH3BP2):c.16A>C (p.Met6Leu)
NM_001122681.2(SH3BP2):c.172G>A (p.Val58Ile) rs754590367
NM_001122681.2(SH3BP2):c.181T>C (p.Phe61Leu)
NM_001122681.2(SH3BP2):c.182T>C (p.Phe61Ser)
NM_001122681.2(SH3BP2):c.189T>C (p.Ser63=)
NM_001122681.2(SH3BP2):c.194C>T (p.Thr65Ile) rs1724390111
NM_001122681.2(SH3BP2):c.199G>A (p.Ala67Thr) rs2108728412
NM_001122681.2(SH3BP2):c.1A>G (p.Met1Val) rs1577354982
NM_001122681.2(SH3BP2):c.205C>T (p.Pro69Ser) rs1453291264
NM_001122681.2(SH3BP2):c.20A>G (p.His7Arg)
NM_001122681.2(SH3BP2):c.230G>C (p.Gly77Ala) rs2108728465
NM_001122681.2(SH3BP2):c.239+11G>A
NM_001122681.2(SH3BP2):c.239+18C>T rs755662443
NM_001122681.2(SH3BP2):c.239+20_239+27dup
NM_001122681.2(SH3BP2):c.239+9C>T
NM_001122681.2(SH3BP2):c.240-17del rs2530324292
NM_001122681.2(SH3BP2):c.240-19_261del
NM_001122681.2(SH3BP2):c.240-1G>A rs1560106586
NM_001122681.2(SH3BP2):c.244A>T (p.Met82Leu) rs2530324431
NM_001122681.2(SH3BP2):c.24G>C (p.Trp8Cys) rs766753967
NM_001122681.2(SH3BP2):c.256G>T (p.Glu86Ter) rs890566926
NM_001122681.2(SH3BP2):c.25C>T (p.Pro9Ser)
NM_001122681.2(SH3BP2):c.271A>G (p.Asn91Asp)
NM_001122681.2(SH3BP2):c.279T>C (p.Val93=) rs2530324553
NM_001122681.2(SH3BP2):c.282C>G (p.Phe94Leu) rs1278859289
NM_001122681.2(SH3BP2):c.290del (p.Lys97fs)
NM_001122681.2(SH3BP2):c.299_300delinsGC (p.His100Arg) rs1577359424
NM_001122681.2(SH3BP2):c.303C>T (p.Ile101=) rs2530324641
NM_001122681.2(SH3BP2):c.305G>C (p.Ser102Thr) rs1484027719
NM_001122681.2(SH3BP2):c.335C>T (p.Ala112Val) rs2530324825
NM_001122681.2(SH3BP2):c.341C>G (p.Ser114Cys) rs1724499985
NM_001122681.2(SH3BP2):c.343G>A (p.Glu115Lys) rs749467680
NM_001122681.2(SH3BP2):c.343_345delinsTCC (p.Glu115Ser) rs2530324891
NM_001122681.2(SH3BP2):c.348G>A (p.Glu116=)
NM_001122681.2(SH3BP2):c.357+14C>A
NM_001122681.2(SH3BP2):c.357+14C>T rs752171978
NM_001122681.2(SH3BP2):c.357+14_357+15insTAGGACGAGTGCAAGGTGACTGGGGGTCC rs1326878343
NM_001122681.2(SH3BP2):c.357+15G>A rs62620003
NM_001122681.2(SH3BP2):c.357+15G>T rs62620003
NM_001122681.2(SH3BP2):c.357+6_357+7del rs749795334
NM_001122681.2(SH3BP2):c.358-15C>A
NM_001122681.2(SH3BP2):c.358-18dup
NM_001122681.2(SH3BP2):c.361T>A (p.Trp121Arg) rs1343265539
NM_001122681.2(SH3BP2):c.369C>T (p.Ala123=) rs2108731277
NM_001122681.2(SH3BP2):c.374T>A (p.Leu125Gln) rs1362087322
NM_001122681.2(SH3BP2):c.375G>A (p.Leu125=)
NM_001122681.2(SH3BP2):c.377G>A (p.Arg126His)
NM_001122681.2(SH3BP2):c.378C>T (p.Arg126=) rs2530327467
NM_001122681.2(SH3BP2):c.389G>C (p.Gly130Ala)
NM_001122681.2(SH3BP2):c.393C>G (p.His131Gln) rs781060795
NM_001122681.2(SH3BP2):c.397C>A (p.His133Asn) rs1577360228
NM_001122681.2(SH3BP2):c.423C>T (p.Asp141=)
NM_001122681.2(SH3BP2):c.425C>T (p.Thr142Ile)
NM_001122681.2(SH3BP2):c.428+12C>A rs765696516
NM_001122681.2(SH3BP2):c.428+20A>C rs900180947
NM_001122681.2(SH3BP2):c.429-13C>G
NM_001122681.2(SH3BP2):c.429-16G>T rs528073383
NM_001122681.2(SH3BP2):c.429-18A>C rs747225696
NM_001122681.2(SH3BP2):c.429-7A>G
NM_001122681.2(SH3BP2):c.429C>T (p.Ser143=) rs140532510
NM_001122681.2(SH3BP2):c.42C>T (p.Ala14=) rs755936125
NM_001122681.2(SH3BP2):c.437G>C (p.Ser146Thr)
NM_001122681.2(SH3BP2):c.447A>G (p.Thr149=) rs1298346520
NM_001122681.2(SH3BP2):c.457T>A (p.Tyr153Asn) rs1724717798
NM_001122681.2(SH3BP2):c.460G>A (p.Gly154Ser)
NM_001122681.2(SH3BP2):c.462C>T (p.Gly154=) rs1234443712
NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala) rs2530338521
NM_001122681.2(SH3BP2):c.476del (p.Pro159fs) rs2108735375
NM_001122681.2(SH3BP2):c.478G>C (p.Val160Leu) rs773270775
NM_001122681.2(SH3BP2):c.490C>G (p.Leu164Val)
NM_001122681.2(SH3BP2):c.496C>T (p.Pro166Ser) rs2530338646
NM_001122681.2(SH3BP2):c.503C>G (p.Pro168Arg) rs1361944284
NM_001122681.2(SH3BP2):c.509del (p.Asp170fs) rs2108735431
NM_001122681.2(SH3BP2):c.517+8C>T rs1724722595
NM_001122681.2(SH3BP2):c.517+9T>C rs751876864
NM_001122681.2(SH3BP2):c.518-11_518-10del rs754201419
NM_001122681.2(SH3BP2):c.518-14C>T rs754011685
NM_001122681.2(SH3BP2):c.518-14del rs1192457972
NM_001122681.2(SH3BP2):c.518-14dup rs1192457972
NM_001122681.2(SH3BP2):c.518-15C>A rs147331573
NM_001122681.2(SH3BP2):c.518-16C>A rs367809628
NM_001122681.2(SH3BP2):c.518-16C>G rs367809628
NM_001122681.2(SH3BP2):c.518-18C>A rs74503655
NM_001122681.2(SH3BP2):c.518-18C>T rs74503655
NM_001122681.2(SH3BP2):c.518-19C>G
NM_001122681.2(SH3BP2):c.549C>T (p.Tyr183=)
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.572C>G (p.Pro191Arg)
NM_001122681.2(SH3BP2):c.573C>G (p.Pro191=) rs755387801
NM_001122681.2(SH3BP2):c.578G>A (p.Arg193Lys)
NM_001122681.2(SH3BP2):c.586+8G>C rs28516876
NM_001122681.2(SH3BP2):c.586+9G>A rs2530340995
NM_001122681.2(SH3BP2):c.586G>T (p.Asp196Tyr) rs2530340943
NM_001122681.2(SH3BP2):c.587-10del rs772225297
NM_001122681.2(SH3BP2):c.587-11T>C rs2108738338
NM_001122681.2(SH3BP2):c.587-19G>C rs780910191
NM_001122681.2(SH3BP2):c.587-4G>T rs2108738343
NM_001122681.2(SH3BP2):c.587A>G (p.Asp196Gly) rs2108738351
NM_001122681.2(SH3BP2):c.58C>T (p.Leu20=)
NM_001122681.2(SH3BP2):c.614C>G (p.Pro205Arg)
NM_001122681.2(SH3BP2):c.619C>T (p.Pro207Ser) rs2530347992
NM_001122681.2(SH3BP2):c.620C>T (p.Pro207Leu) rs2108738398
NM_001122681.2(SH3BP2):c.643C>T (p.Pro215Ser) rs139934973
NM_001122681.2(SH3BP2):c.661_710delinsAGAAGGGTG (p.Pro221fs) rs2530348243
NM_001122681.2(SH3BP2):c.665G>A (p.Arg222Gln) rs756724332
NM_001122681.2(SH3BP2):c.672C>T (p.His224=) rs1724858059
NM_001122681.2(SH3BP2):c.67A>T (p.Met23Leu) rs1724253647
NM_001122681.2(SH3BP2):c.690C>T (p.Gly230=) rs935894084
NM_001122681.2(SH3BP2):c.692C>T (p.Pro231Leu) rs1724859262
NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del) rs780059018
NM_001122681.2(SH3BP2):c.702A>C (p.Leu234=) rs1197887204
NM_001122681.2(SH3BP2):c.705G>A (p.Leu235=) rs2530348630
NM_001122681.2(SH3BP2):c.707C>A (p.Pro236Gln) rs2108738526
NM_001122681.2(SH3BP2):c.707C>T (p.Pro236Leu) rs2108738526
NM_001122681.2(SH3BP2):c.716C>G (p.Pro239Arg) rs770940629
NM_001122681.2(SH3BP2):c.71C>G (p.Pro24Arg) rs1724253944
NM_001122681.2(SH3BP2):c.720T>A (p.Pro240=) rs1414460870
NM_001122681.2(SH3BP2):c.726C>T (p.His242=) rs1401061782
NM_001122681.2(SH3BP2):c.745C>T (p.Leu249=) rs1398743947
NM_001122681.2(SH3BP2):c.749_750delinsTG (p.Ala250Val) rs2530348906
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=) rs231399
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) rs231399
NM_001122681.2(SH3BP2):c.754G>A (p.Glu252Lys) rs1308552287
NM_001122681.2(SH3BP2):c.754G>C (p.Glu252Gln)
NM_001122681.2(SH3BP2):c.761C>G (p.Ser254Cys) rs2530349094
NM_001122681.2(SH3BP2):c.762C>T (p.Ser254=) rs2108738650
NM_001122681.2(SH3BP2):c.771C>T (p.Asp257=) rs753445987
NM_001122681.2(SH3BP2):c.782C>G (p.Pro261Arg) rs146213141
NM_001122681.2(SH3BP2):c.782C>T (p.Pro261Leu) rs146213141
NM_001122681.2(SH3BP2):c.783G>A (p.Pro261=) rs139050609
NM_001122681.2(SH3BP2):c.783G>C (p.Pro261=) rs139050609
NM_001122681.2(SH3BP2):c.787C>A (p.Arg263=) rs539765774
NM_001122681.2(SH3BP2):c.787C>T (p.Arg263Trp) rs539765774
NM_001122681.2(SH3BP2):c.789G>T (p.Arg263=) rs143996946
NM_001122681.2(SH3BP2):c.793G>A (p.Glu265Lys)
NM_001122681.2(SH3BP2):c.806G>C (p.Arg269Thr) rs2530349421
NM_001122681.2(SH3BP2):c.808G>A (p.Val270Ile) rs2530349440
NM_001122681.2(SH3BP2):c.818C>A (p.Thr273Asn)
NM_001122681.2(SH3BP2):c.819C>T (p.Thr273=)
NM_001122681.2(SH3BP2):c.81G>T (p.Val27=) rs745515987
NM_001122681.2(SH3BP2):c.821C>G (p.Pro274Arg) rs760547264
NM_001122681.2(SH3BP2):c.836A>G (p.Asp279Gly) rs1724872623
NM_001122681.2(SH3BP2):c.837T>A (p.Asp279Glu) rs1724872758
NM_001122681.2(SH3BP2):c.868G>A (p.Gly290Ser) rs757550176
NM_001122681.2(SH3BP2):c.86A>G (p.Lys29Arg)
NM_001122681.2(SH3BP2):c.874C>G (p.Arg292Gly) rs746025620
NM_001122681.2(SH3BP2):c.879A>C (p.Lys293Asn) rs548742750
NM_001122681.2(SH3BP2):c.880C>T (p.Pro294Ser)
NM_001122681.2(SH3BP2):c.882C>G (p.Pro294=) rs141046147
NM_001122681.2(SH3BP2):c.884C>T (p.Pro295Leu) rs768677594
NM_001122681.2(SH3BP2):c.8C>T (p.Ala3Val) rs1455119402
NM_001122681.2(SH3BP2):c.908C>T (p.Pro303Leu) rs2530350066
NM_001122681.2(SH3BP2):c.914C>A (p.Pro305Gln)
NM_001122681.2(SH3BP2):c.946T>A (p.Ser316Thr) rs2530350201
NM_001122681.2(SH3BP2):c.959C>G (p.Ala320Gly) rs1724884429
NM_001122681.2(SH3BP2):c.963C>T (p.Ala321=) rs2530350259
NM_001122681.2(SH3BP2):c.968_973del (p.Met323_Ala324del) rs1305889036
NM_001122681.2(SH3BP2):c.977C>T (p.Ala326Val) rs2108739016
NM_001122681.2(SH3BP2):c.980C>T (p.Thr327Ile) rs2530350323
NM_001122681.2(SH3BP2):c.984C>T (p.Ser328=) rs1724886015
NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer) rs1171967366

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.