ClinVar Miner

List of variants reported as likely benign for Fibrous dysplasia of jaw

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) rs114926004 0.01089
NM_001122681.2(SH3BP2):c.*830G>A rs561967879 0.00252
NM_001122681.2(SH3BP2):c.*102G>T rs183257237 0.00173
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_001122681.2(SH3BP2):c.*5352T>C rs76357988 0.00101
NM_001122681.2(SH3BP2):c.*2513_*2518del rs533765500 0.00092
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042 0.00072
NM_001122681.2(SH3BP2):c.*1582C>T rs191233292 0.00070
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 0.00057
NM_001122681.2(SH3BP2):c.1549-12C>A rs202005559 0.00054
NM_001122681.2(SH3BP2):c.1151G>A (p.Arg384Gln) rs143129053 0.00042
NM_001122681.2(SH3BP2):c.*1655C>T rs563251509 0.00031
NM_001122681.2(SH3BP2):c.*5109C>T rs541832240 0.00027
NM_001122681.2(SH3BP2):c.*1361C>G rs142486836 0.00026
NM_001122681.2(SH3BP2):c.1141G>A (p.Val381Met) rs201966956 0.00025
NM_001122681.2(SH3BP2):c.*5875A>G rs531267078 0.00022
NM_001122681.2(SH3BP2):c.*2917C>T rs530055437 0.00018
NM_001122681.2(SH3BP2):c.*3916C>G rs544079376 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.459C>T (p.Tyr153=) rs200183258 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.1386G>A (p.Thr462=) rs139409304 0.00013
NM_001122681.2(SH3BP2):c.79G>A (p.Val27Met) rs200207198 0.00013
NM_001122681.2(SH3BP2):c.1385C>T (p.Thr462Met) rs201536400 0.00012
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.1481C>T (p.Ser494Leu) rs377411211 0.00009
NM_001122681.2(SH3BP2):c.1665C>T (p.Tyr555=) rs368135013 0.00009
NM_001122681.2(SH3BP2):c.1294C>T (p.Arg432Trp) rs373894173 0.00008
NM_001122681.2(SH3BP2):c.1489-15G>A rs375344873 0.00008
NM_001122681.2(SH3BP2):c.867C>T (p.Pro289=) rs151102529 0.00008
NM_001122681.2(SH3BP2):c.894G>A (p.Arg298=) rs547957534 0.00008
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp) rs529543434 0.00006
NM_001122681.2(SH3BP2):c.1197C>T (p.Pro399=) rs746578391 0.00006
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486 0.00006
NM_001122681.2(SH3BP2):c.429-10T>C rs371090009 0.00006
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) rs150461713 0.00006
NM_001122681.2(SH3BP2):c.513T>C (p.Asn171=) rs375149081 0.00006
NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=) rs774809755 0.00006
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.247C>A (p.Arg83=) rs139626310 0.00005
NM_001122681.2(SH3BP2):c.1326C>T (p.Asp442=) rs761864704 0.00004
NM_001122681.2(SH3BP2):c.1351-13C>T rs367963191 0.00004
NM_001122681.2(SH3BP2):c.1351-15G>A rs374658620 0.00004
NM_001122681.2(SH3BP2):c.1374C>T (p.Phe458=) rs748346628 0.00004
NM_001122681.2(SH3BP2):c.240-14C>T rs763517516 0.00004
NM_001122681.2(SH3BP2):c.428+8C>T rs777175847 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.528C>T (p.His176=) rs138986397 0.00004
NM_001122681.2(SH3BP2):c.587-20C>T rs112730511 0.00004
NM_001122681.2(SH3BP2):c.6G>A (p.Ala2=) rs376112456 0.00004
NM_001122681.2(SH3BP2):c.1140C>T (p.Pro380=) rs771636100 0.00003
NM_001122681.2(SH3BP2):c.1198G>A (p.Ala400Thr) rs768146888 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.1335C>T (p.Asp445=) rs762896248 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.429-16G>A rs528073383 0.00003
NM_001122681.2(SH3BP2):c.429-17C>T rs768724083 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.861C>T (p.Thr287=) rs376641544 0.00003
NM_001122681.2(SH3BP2):c.990C>T (p.Asn330=) rs769722266 0.00003
NM_001122681.2(SH3BP2):c.1098C>T (p.Asp366=) rs751722349 0.00002
NM_001122681.2(SH3BP2):c.1254C>T (p.Pro418=) rs201959118 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.1489-9G>A rs777133458 0.00002
NM_001122681.2(SH3BP2):c.207G>A (p.Pro69=) rs1017260878 0.00002
NM_001122681.2(SH3BP2):c.644C>G (p.Pro215Arg) rs201983881 0.00002
NM_001122681.2(SH3BP2):c.714G>A (p.Pro238=) rs369981092 0.00002
NM_001122681.2(SH3BP2):c.849C>T (p.Ser283=) rs750082688 0.00002
NM_001122681.2(SH3BP2):c.1056G>A (p.Val352=) rs1257654174 0.00001
NM_001122681.2(SH3BP2):c.1125A>G (p.Gly375=) rs770845820 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.1191G>A (p.Ala397=) rs778524532 0.00001
NM_001122681.2(SH3BP2):c.1224G>A (p.Pro408=) rs774621888 0.00001
NM_001122681.2(SH3BP2):c.1239C>T (p.Leu413=) rs957454698 0.00001
NM_001122681.2(SH3BP2):c.137-7C>T rs767584072 0.00001
NM_001122681.2(SH3BP2):c.1461C>T (p.Ile487=) rs1278262490 0.00001
NM_001122681.2(SH3BP2):c.1485G>A (p.Gly495=) rs546812362 0.00001
NM_001122681.2(SH3BP2):c.1489-10C>T rs371550124 0.00001
NM_001122681.2(SH3BP2):c.1549-6C>G rs1232849407 0.00001
NM_001122681.2(SH3BP2):c.1608G>A (p.Glu536=) rs750263899 0.00001
NM_001122681.2(SH3BP2):c.1623C>T (p.His541=) rs779748713 0.00001
NM_001122681.2(SH3BP2):c.1647G>A (p.Leu549=) rs547700606 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.225G>C (p.Leu75=) rs142944605 0.00001
NM_001122681.2(SH3BP2):c.239+10C>T rs780878297 0.00001
NM_001122681.2(SH3BP2):c.267G>A (p.Thr89=) rs748371031 0.00001
NM_001122681.2(SH3BP2):c.333G>A (p.Ser111=) rs554077647 0.00001
NM_001122681.2(SH3BP2):c.342C>T (p.Ser114=) rs1135633 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.358-13C>T rs199799999 0.00001
NM_001122681.2(SH3BP2):c.428+9G>A rs113416255 0.00001
NM_001122681.2(SH3BP2):c.477T>C (p.Pro159=) rs1189514551 0.00001
NM_001122681.2(SH3BP2):c.517+9T>C rs751876864 0.00001
NM_001122681.2(SH3BP2):c.518-19C>T rs766907808 0.00001
NM_001122681.2(SH3BP2):c.531C>T (p.Asp177=) rs143009181 0.00001
NM_001122681.2(SH3BP2):c.573C>T (p.Pro191=) rs755387801 0.00001
NM_001122681.2(SH3BP2):c.633G>A (p.Thr211=) rs201465814 0.00001
NM_001122681.2(SH3BP2):c.756G>A (p.Glu252=) rs760531065 0.00001
NM_001122681.2(SH3BP2):c.765G>A (p.Lys255=) rs1259759373 0.00001
NM_001122681.2(SH3BP2):c.78C>T (p.Gly26=) rs770692755 0.00001
NM_001122681.2(SH3BP2):c.927C>T (p.Thr309=) rs192098170 0.00001
NM_001122681.2(SH3BP2):c.96C>T (p.Tyr32=) rs375419257 0.00001
NM_001122681.2(SH3BP2):c.*742C>A rs535270976
NM_001122681.2(SH3BP2):c.1008C>T (p.Ser336=) rs1724887772
NM_001122681.2(SH3BP2):c.1032A>G (p.Pro344=)
NM_001122681.2(SH3BP2):c.1071C>T (p.Pro357=)
NM_001122681.2(SH3BP2):c.1113A>T (p.Ala371=)
NM_001122681.2(SH3BP2):c.1131T>C (p.Phe377=) rs1193342545
NM_001122681.2(SH3BP2):c.1137C>T (p.Pro379=)
NM_001122681.2(SH3BP2):c.1206G>A (p.Leu402=)
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.1230C>T (p.Leu410=)
NM_001122681.2(SH3BP2):c.1233G>T (p.Pro411=)
NM_001122681.2(SH3BP2):c.1241+10T>C rs778876594
NM_001122681.2(SH3BP2):c.1241+16G>A rs1294466954
NM_001122681.2(SH3BP2):c.1242-12C>T
NM_001122681.2(SH3BP2):c.1242-16C>T
NM_001122681.2(SH3BP2):c.1242-7C>T
NM_001122681.2(SH3BP2):c.1242-8C>A
NM_001122681.2(SH3BP2):c.1252C>T (p.Pro418Ser) rs757336022
NM_001122681.2(SH3BP2):c.1260G>C (p.Gly420=)
NM_001122681.2(SH3BP2):c.1280_1282del (p.Ser427del) rs771719677
NM_001122681.2(SH3BP2):c.1293C>G (p.Pro431=)
NM_001122681.2(SH3BP2):c.1296G>A (p.Arg432=)
NM_001122681.2(SH3BP2):c.1332G>C (p.Ser444=)
NM_001122681.2(SH3BP2):c.1341C>T (p.Asp447=)
NM_001122681.2(SH3BP2):c.1350+12C>T
NM_001122681.2(SH3BP2):c.1350+13G>A
NM_001122681.2(SH3BP2):c.1350+15C>G
NM_001122681.2(SH3BP2):c.1350+9G>C
NM_001122681.2(SH3BP2):c.1353G>A (p.Val451=)
NM_001122681.2(SH3BP2):c.136+17G>A
NM_001122681.2(SH3BP2):c.136+19_136+23del
NM_001122681.2(SH3BP2):c.137-10C>T
NM_001122681.2(SH3BP2):c.1371C>G (p.Val457=)
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.1392C>T (p.Ser464=)
NM_001122681.2(SH3BP2):c.1406+11A>G
NM_001122681.2(SH3BP2):c.1406+15C>G
NM_001122681.2(SH3BP2):c.1406+18T>C
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.1425C>T (p.Ser475=) rs768514069
NM_001122681.2(SH3BP2):c.1440C>G (p.Pro480=)
NM_001122681.2(SH3BP2):c.1482G>A (p.Ser494=)
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
NM_001122681.2(SH3BP2):c.1489-6C>T rs762256499
NM_001122681.2(SH3BP2):c.1491C>G (p.Val497=)
NM_001122681.2(SH3BP2):c.1500G>A (p.Val500=) rs2108742910
NM_001122681.2(SH3BP2):c.1506C>T (p.Asp502=)
NM_001122681.2(SH3BP2):c.1518C>T (p.Asn506=) rs1577372648
NM_001122681.2(SH3BP2):c.1548+20G>T rs2108742974
NM_001122681.2(SH3BP2):c.1548+9G>T
NM_001122681.2(SH3BP2):c.1549-14C>T
NM_001122681.2(SH3BP2):c.1549-15del
NM_001122681.2(SH3BP2):c.1549-19C>G rs1449962815
NM_001122681.2(SH3BP2):c.1549-19_1549-17del
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=)
NM_001122681.2(SH3BP2):c.1572C>T (p.Gly524=)
NM_001122681.2(SH3BP2):c.1584T>C (p.Phe528=)
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=)
NM_001122681.2(SH3BP2):c.1620C>T (p.Thr540=)
NM_001122681.2(SH3BP2):c.1635C>T (p.Ser545=)
NM_001122681.2(SH3BP2):c.1656G>A (p.Arg552=)
NM_001122681.2(SH3BP2):c.1662C>T (p.Pro554=) rs775871629
NM_001122681.2(SH3BP2):c.1668C>A (p.Gly556=) rs2108743851
NM_001122681.2(SH3BP2):c.189T>C (p.Ser63=)
NM_001122681.2(SH3BP2):c.239+11G>A
NM_001122681.2(SH3BP2):c.239+18C>T
NM_001122681.2(SH3BP2):c.239+20_239+27dup
NM_001122681.2(SH3BP2):c.239+9C>T
NM_001122681.2(SH3BP2):c.240-17del
NM_001122681.2(SH3BP2):c.299_300delinsGC (p.His100Arg) rs1577359424
NM_001122681.2(SH3BP2):c.303C>T (p.Ile101=)
NM_001122681.2(SH3BP2):c.330C>T (p.Phe110=)
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+15G>A
NM_001122681.2(SH3BP2):c.357+17G>A
NM_001122681.2(SH3BP2):c.358-15C>A
NM_001122681.2(SH3BP2):c.358-18dup
NM_001122681.2(SH3BP2):c.369C>T (p.Ala123=) rs2108731277
NM_001122681.2(SH3BP2):c.375G>A (p.Leu125=)
NM_001122681.2(SH3BP2):c.378C>T (p.Arg126=)
NM_001122681.2(SH3BP2):c.399C>T (p.His133=)
NM_001122681.2(SH3BP2):c.39G>A (p.Lys13=)
NM_001122681.2(SH3BP2):c.423C>T (p.Asp141=)
NM_001122681.2(SH3BP2):c.428+12C>A
NM_001122681.2(SH3BP2):c.428+16G>C
NM_001122681.2(SH3BP2):c.428+20A>C
NM_001122681.2(SH3BP2):c.429-15C>T
NM_001122681.2(SH3BP2):c.429-16G>T rs528073383
NM_001122681.2(SH3BP2):c.429-18A>C
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.447A>G (p.Thr149=) rs1298346520
NM_001122681.2(SH3BP2):c.453C>T (p.Ser151=)
NM_001122681.2(SH3BP2):c.462C>T (p.Gly154=)
NM_001122681.2(SH3BP2):c.498G>A (p.Pro166=)
NM_001122681.2(SH3BP2):c.517+16G>A
NM_001122681.2(SH3BP2):c.517+8C>T
NM_001122681.2(SH3BP2):c.518-11_518-10del rs754201419
NM_001122681.2(SH3BP2):c.518-14C>T
NM_001122681.2(SH3BP2):c.518-15C>A
NM_001122681.2(SH3BP2):c.518-16C>A rs367809628
NM_001122681.2(SH3BP2):c.518-16C>G rs367809628
NM_001122681.2(SH3BP2):c.518-19C>G
NM_001122681.2(SH3BP2):c.549C>T (p.Tyr183=)
NM_001122681.2(SH3BP2):c.555G>A (p.Glu185=)
NM_001122681.2(SH3BP2):c.567G>A (p.Pro189=)
NM_001122681.2(SH3BP2):c.573C>G (p.Pro191=)
NM_001122681.2(SH3BP2):c.586+11C>T
NM_001122681.2(SH3BP2):c.586+12G>A
NM_001122681.2(SH3BP2):c.586+8G>C rs28516876
NM_001122681.2(SH3BP2):c.586+9G>A
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.58C>T (p.Leu20=)
NM_001122681.2(SH3BP2):c.672C>T (p.His224=) rs1724858059
NM_001122681.2(SH3BP2):c.690C>T (p.Gly230=) rs935894084
NM_001122681.2(SH3BP2):c.693C>T (p.Pro231=)
NM_001122681.2(SH3BP2):c.702A>C (p.Leu234=) rs1197887204
NM_001122681.2(SH3BP2):c.703C>T (p.Leu235=)
NM_001122681.2(SH3BP2):c.705G>A (p.Leu235=)
NM_001122681.2(SH3BP2):c.720T>A (p.Pro240=) rs1414460870
NM_001122681.2(SH3BP2):c.726C>T (p.His242=)
NM_001122681.2(SH3BP2):c.745C>T (p.Leu249=) rs1398743947
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=) rs231399
NM_001122681.2(SH3BP2):c.762C>T (p.Ser254=) rs2108738650
NM_001122681.2(SH3BP2):c.771C>T (p.Asp257=)
NM_001122681.2(SH3BP2):c.782C>T (p.Pro261Leu) rs146213141
NM_001122681.2(SH3BP2):c.783G>A (p.Pro261=)
NM_001122681.2(SH3BP2):c.783G>C (p.Pro261=)
NM_001122681.2(SH3BP2):c.787C>A (p.Arg263=) rs539765774
NM_001122681.2(SH3BP2):c.789G>T (p.Arg263=)
NM_001122681.2(SH3BP2):c.819C>T (p.Thr273=)
NM_001122681.2(SH3BP2):c.81G>T (p.Val27=) rs745515987
NM_001122681.2(SH3BP2):c.882C>G (p.Pro294=)
NM_001122681.2(SH3BP2):c.936C>T (p.His312=)
NM_001122681.2(SH3BP2):c.963C>T (p.Ala321=)
NM_001122681.2(SH3BP2):c.984C>T (p.Ser328=)
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)

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