ClinVar Miner

List of variants in gene BIN1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 582
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HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.84+4287G>T rs755639 0.56496
NM_139343.3(BIN1):c.1002+163T>C rs2276582 0.53506
NM_139343.3(BIN1):c.1372-90C>T rs6745677 0.38066
NM_139343.3(BIN1):c.1573-128T>A rs2071270 0.35075
NM_139343.3(BIN1):c.1132-126_1132-125dup rs35339559 0.33588
NM_139343.3(BIN1):c.412-25T>C rs67327804 0.33319
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_139343.3(BIN1):c.774+62G>A rs2071268 0.30494
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_139343.3(BIN1):c.1674+56G>A rs7568161 0.20707
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_139343.3(BIN1):c.-27C>T rs11554586 0.13209
NM_139343.3(BIN1):c.775-4G>A rs61748157 0.10181
NM_139343.3(BIN1):c.1573-18G>C rs12466912 0.04714
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) rs1137845 0.04283
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_139343.2(BIN1):c.*501G>A rs77059199 0.02237
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_139343.3(BIN1):c.1131+18C>T rs191760397 0.00233
NM_139343.3(BIN1):c.858-5C>T rs75328896 0.00222
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys) rs148422103 0.00152
NM_139343.3(BIN1):c.1611C>T (p.Asp537=) rs142523172 0.00101
NM_139343.3(BIN1):c.1003-15G>A rs149290511 0.00095
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_139343.3(BIN1):c.471C>T (p.Tyr157=) rs138885327 0.00058
NM_139343.3(BIN1):c.*22C>T rs200108564 0.00046
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) rs141119288 0.00043
NM_139343.3(BIN1):c.*303A>G rs766515815 0.00041
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043 0.00041
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NM_139343.3(BIN1):c.1385C>T (p.Ser462Leu) rs200580275 0.00029
NM_139343.3(BIN1):c.1674+20G>A rs374227714 0.00029
NM_139343.3(BIN1):c.*418C>T rs779551565 0.00025
NM_139343.3(BIN1):c.402C>T (p.Pro134=) rs144136512 0.00023
NM_139343.3(BIN1):c.1131+7C>T rs376590911 0.00021
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NM_139343.3(BIN1):c.316-19G>A rs369840788 0.00018
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) rs200887814 0.00016
NM_139343.3(BIN1):c.1480G>A (p.Val494Met) rs144459969 0.00016
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp) rs76037557 0.00014
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397 0.00014
NM_139343.3(BIN1):c.1003-10C>T rs763361398 0.00011
NM_139343.3(BIN1):c.1131+14G>A rs767192904 0.00011
NM_139343.3(BIN1):c.699-13C>T rs373662459 0.00011
NM_139343.3(BIN1):c.775-15C>T rs367719456 0.00011
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) rs148945502 0.00010
NM_139343.3(BIN1):c.857+4C>T rs61748156 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_139343.3(BIN1):c.*470A>C rs984385783 0.00009
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met) rs754678339 0.00009
NM_139343.3(BIN1):c.1264-5A>C rs541219767 0.00009
NM_139343.3(BIN1):c.636C>T (p.Ala212=) rs201238412 0.00009
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) rs372072916 0.00009
NM_139343.3(BIN1):c.85-6C>T rs200855894 0.00009
NM_139343.3(BIN1):c.285C>T (p.Pro95=) rs377467117 0.00008
NM_139343.3(BIN1):c.735C>T (p.Ile245=) rs184358580 0.00008
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) rs375322787 0.00007
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_139343.3(BIN1):c.1587C>T (p.His529=) rs144458131 0.00007
NM_139343.3(BIN1):c.309C>T (p.Ile103=) rs151288388 0.00007
NM_139343.3(BIN1):c.*1C>T rs770804438 0.00006
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) rs558530329 0.00006
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) rs747660857 0.00006
NM_139343.3(BIN1):c.1353C>T (p.Ala451=) rs552244334 0.00006
NM_139343.3(BIN1):c.1359G>A (p.Pro453=) rs201397427 0.00006
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) rs780918654 0.00006
NM_139343.3(BIN1):c.1462-3C>T rs200384643 0.00006
NM_139343.3(BIN1):c.1479C>T (p.Val493=) rs773313892 0.00006
NM_139343.3(BIN1):c.327G>A (p.Leu109=) rs920170949 0.00006
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) rs766319258 0.00006
NM_139343.3(BIN1):c.822C>T (p.His274=) rs368730077 0.00006
NM_139343.3(BIN1):c.915C>T (p.Ala305=) rs761585447 0.00006
NM_139343.3(BIN1):c.1131+9C>T rs138606879 0.00005
NM_139343.3(BIN1):c.1132-6_1132-4dup rs765093741 0.00005
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val) rs140410496 0.00005
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser) rs745758782 0.00005
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys) rs147655157 0.00005
NM_139343.3(BIN1):c.52G>A (p.Val18Met) rs566597765 0.00005
NM_139343.3(BIN1):c.924C>T (p.Pro308=) rs367611371 0.00005
NM_139343.3(BIN1):c.1240-7C>T rs746676469 0.00004
NM_139343.3(BIN1):c.1264-15G>A rs750540849 0.00004
NM_139343.3(BIN1):c.1281C>T (p.Ala427=) rs373834859 0.00004
NM_139343.3(BIN1):c.1308C>T (p.Ser436=) rs760959487 0.00004
NM_139343.3(BIN1):c.1314C>T (p.Ala438=) rs747474627 0.00004
NM_139343.3(BIN1):c.1371+1G>T rs556129959 0.00004
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) rs751051376 0.00004
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) rs34647988 0.00004
NM_139343.3(BIN1):c.1462-17C>T rs757885823 0.00004
NM_139343.3(BIN1):c.1573-14C>T rs760955602 0.00004
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn) rs772786604 0.00004
NM_139343.3(BIN1):c.1674+3G>T rs1420732725 0.00004
NM_139343.3(BIN1):c.279T>C (p.Asp93=) rs770994335 0.00004
NM_139343.3(BIN1):c.438G>A (p.Lys146=) rs760028920 0.00004
NM_139343.3(BIN1):c.520-16G>T rs766300039 0.00004
NM_139343.3(BIN1):c.613-9G>T rs1009608542 0.00004
NM_139343.3(BIN1):c.775-13G>C rs778119265 0.00004
NM_139343.3(BIN1):c.839C>T (p.Thr280Met) rs201872255 0.00004
NM_139343.3(BIN1):c.866C>T (p.Ala289Val) rs771112840 0.00004
NM_139343.3(BIN1):c.903T>C (p.Asp301=) rs141588262 0.00004
NM_139343.3(BIN1):c.960C>T (p.Gly320=) rs758286460 0.00004
NM_139343.3(BIN1):c.968C>T (p.Thr323Met) rs763810794 0.00004
NM_139343.3(BIN1):c.972C>T (p.Pro324=) rs537603056 0.00004
NM_139343.3(BIN1):c.1003-16C>T rs547659375 0.00003
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) rs794727107 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1197G>A (p.Pro399=) rs370728071 0.00003
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly) rs758494519 0.00003
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys) rs1342661066 0.00003
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862 0.00003
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu) rs587783342 0.00003
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser) rs769724273 0.00003
NM_139343.3(BIN1):c.450C>T (p.Tyr150=) rs550177667 0.00003
NM_139343.3(BIN1):c.520-6C>T rs367953762 0.00003
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr) rs779607755 0.00003
NM_139343.3(BIN1):c.615C>T (p.Ala205=) rs748308882 0.00003
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522 0.00003
NM_139343.3(BIN1):c.698+9C>T rs763703697 0.00003
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg) rs771506242 0.00003
NM_139343.3(BIN1):c.867G>A (p.Ala289=) rs201839857 0.00003
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser) rs199551366 0.00003
NM_139343.3(BIN1):c.*301C>T rs886054830 0.00002
NM_139343.3(BIN1):c.1083G>A (p.Leu361=) rs543438812 0.00002
NM_139343.3(BIN1):c.1264-8G>A rs776696908 0.00002
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu) rs760559539 0.00002
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val) rs746346952 0.00002
NM_139343.3(BIN1):c.1440G>A (p.Thr480=) rs754900286 0.00002
NM_139343.3(BIN1):c.1462-16G>A rs372302632 0.00002
NM_139343.3(BIN1):c.1464C>T (p.Ser488=) rs759941022 0.00002
NM_139343.3(BIN1):c.1530T>C (p.Ser510=) rs778580743 0.00002
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr) rs756816560 0.00002
NM_139343.3(BIN1):c.1541G>A (p.Arg514His) rs766615886 0.00002
NM_139343.3(BIN1):c.1548C>T (p.Asp516=) rs750869889 0.00002
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys) rs773732601 0.00002
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val) rs771368114 0.00002
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys) rs1042277527 0.00002
NM_139343.3(BIN1):c.220+18C>T rs761189061 0.00002
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr) rs774273606 0.00002
NM_139343.3(BIN1):c.321C>T (p.Asn107=) rs529323298 0.00002
NM_139343.3(BIN1):c.393C>T (p.Gly131=) rs1455926606 0.00002
NM_139343.3(BIN1):c.613-14G>A rs770168243 0.00002
NM_139343.3(BIN1):c.661G>A (p.Val221Met) rs573529529 0.00002
NM_139343.3(BIN1):c.775-3C>T rs373768625 0.00002
NM_139343.3(BIN1):c.*243T>G rs886054831 0.00001
NM_139343.3(BIN1):c.*413G>A rs886054829 0.00001
NM_139343.3(BIN1):c.*449G>A rs369704619 0.00001
NM_139343.3(BIN1):c.1003-6C>A rs1406716458 0.00001
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser) rs1405949552 0.00001
NM_139343.3(BIN1):c.1029G>A (p.Pro343=) rs1470654878 0.00001
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu) rs775494528 0.00001
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val) rs1355424178 0.00001
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe) rs965561469 0.00001
NM_139343.3(BIN1):c.1092C>T (p.Asp364=) rs745647728 0.00001
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met) rs577812854 0.00001
NM_139343.3(BIN1):c.1095G>A (p.Thr365=) rs1401448705 0.00001
NM_139343.3(BIN1):c.1113C>T (p.Ser371=) rs757286408 0.00001
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00001
NM_139343.3(BIN1):c.1119C>T (p.Thr373=) rs1444368852 0.00001
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys) rs1268978517 0.00001
NM_139343.3(BIN1):c.1188C>T (p.Asp396=) rs1321356771 0.00001
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr) rs769252326 0.00001
NM_139343.3(BIN1):c.1239+12C>T rs1051734043 0.00001
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala) rs777951748 0.00001
NM_139343.3(BIN1):c.1263+17C>T rs569766405 0.00001
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly) rs1468092156 0.00001
NM_139343.3(BIN1):c.1305C>T (p.Pro435=) rs1202386291 0.00001
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile) rs886054834 0.00001
NM_139343.3(BIN1):c.1371+12C>T rs1015206482 0.00001
NM_139343.3(BIN1):c.1372-7G>T rs777558116 0.00001
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile) rs769199881 0.00001
NM_139343.3(BIN1):c.141C>T (p.Cys47=) rs747090652 0.00001
NM_139343.3(BIN1):c.1443G>A (p.Ala481=) rs765816262 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.1461+6A>T rs972060066 0.00001
NM_139343.3(BIN1):c.1516G>A (p.Val506Met) rs371571307 0.00001
NM_139343.3(BIN1):c.1536C>T (p.Ala512=) rs753612525 0.00001
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg) rs777452575 0.00001
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu) rs755351031 0.00001
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe) rs763458588 0.00001
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg) rs765354438 0.00001
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser) rs369549551 0.00001
NM_139343.3(BIN1):c.1608A>G (p.Thr536=) rs746208232 0.00001
NM_139343.3(BIN1):c.1632T>G (p.Gly544=) rs937564049 0.00001
NM_139343.3(BIN1):c.165+6T>C rs763931802 0.00001
NM_139343.3(BIN1):c.166-13C>T rs1182776886 0.00001
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val) rs774321875 0.00001
NM_139343.3(BIN1):c.1675-7C>T rs372449622 0.00001
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr) rs1682474004 0.00001
NM_139343.3(BIN1):c.1696G>A (p.Val566Met) rs761759946 0.00001
NM_139343.3(BIN1):c.1698G>A (p.Val566=) rs1398854153 0.00001
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile) rs759691190 0.00001
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser) rs1466748456 0.00001
NM_139343.3(BIN1):c.221-8C>T rs750040017 0.00001
NM_139343.3(BIN1):c.228C>T (p.His76=) rs754621895 0.00001
NM_139343.3(BIN1):c.276C>T (p.Pro92=) rs1013293394 0.00001
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn) rs532260569 0.00001
NM_139343.3(BIN1):c.330G>A (p.Leu110=) rs746946704 0.00001
NM_139343.3(BIN1):c.405C>T (p.Asp135=) rs956631103 0.00001
NM_139343.3(BIN1):c.416G>A (p.Arg139His) rs755355125 0.00001
NM_139343.3(BIN1):c.434G>A (p.Arg145His) rs1219115067 0.00001
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys) rs764377144 0.00001
NM_139343.3(BIN1):c.519+4A>G rs1429919147 0.00001
NM_139343.3(BIN1):c.520-3C>A rs1455432609 0.00001
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu) rs776075897 0.00001
NM_139343.3(BIN1):c.546C>T (p.Ala182=) rs147149003 0.00001
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu) rs777940512 0.00001
NM_139343.3(BIN1):c.570G>T (p.Leu190=) rs767620839 0.00001
NM_139343.3(BIN1):c.57G>C (p.Gln19His) rs142657993 0.00001
NM_139343.3(BIN1):c.582C>T (p.Leu194=) rs1319287534 0.00001
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter) rs762897872 0.00001
NM_139343.3(BIN1):c.613-5C>G rs1408065039 0.00001
NM_139343.3(BIN1):c.684G>A (p.Pro228=) rs778962397 0.00001
NM_139343.3(BIN1):c.698+14C>T rs376710764 0.00001
NM_139343.3(BIN1):c.698+15G>A rs535176915 0.00001
NM_139343.3(BIN1):c.699-4G>A rs1389764447 0.00001
NM_139343.3(BIN1):c.699-5T>C rs1573608578 0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261 0.00001
NM_139343.3(BIN1):c.702C>T (p.Arg234=) rs775573748 0.00001
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly) rs777898974 0.00001
NM_139343.3(BIN1):c.738G>A (p.Ala246=) rs751182086 0.00001
NM_139343.3(BIN1):c.767T>C (p.Met256Thr) rs975404965 0.00001
NM_139343.3(BIN1):c.774+10G>A rs1684774289 0.00001
NM_139343.3(BIN1):c.774+13G>A rs767512096 0.00001
NM_139343.3(BIN1):c.774+9dup rs1196593252 0.00001
NM_139343.3(BIN1):c.784A>C (p.Asn262His) rs1331854784 0.00001
NM_139343.3(BIN1):c.804C>T (p.Val268=) rs761683510 0.00001
NM_139343.3(BIN1):c.84+1G>A rs1364583460 0.00001
NM_139343.3(BIN1):c.85-14C>T rs1191884719 0.00001
NM_139343.3(BIN1):c.85-5G>A rs371593265 0.00001
NM_139343.3(BIN1):c.864C>T (p.Asn288=) rs746393271 0.00001
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn) rs1490772170 0.00001
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr) rs1160778854 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser) rs748381039 0.00001
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser) rs781377841 0.00001
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser) rs753614814 0.00001
NM_139343.3(BIN1):c.975G>A (p.Gly325=) rs771288492 0.00001
NC_000002.11:g.(?_127804599)_(127865903_?)del
NC_000002.11:g.(?_127806102)_(127864519_?)dup
NC_000002.11:g.(?_127825719)_(127828412_?)dup
NC_000002.11:g.(?_127834182)_(127864519_?)dup
NC_000002.11:g.(?_127864416)_(127864519_?)dup
NC_000002.12:g.(?_127106850)_(127106953_?)dup
NM_139343.3(BIN1):c.*194C>T rs565856632
NM_139343.3(BIN1):c.*214G>A rs886054832
NM_139343.3(BIN1):c.*247G>T rs1334404831
NM_139343.3(BIN1):c.*479del rs367627116
NM_139343.3(BIN1):c.*55G>A rs886054833
NM_139343.3(BIN1):c.*82C>A rs111649895
NM_139343.3(BIN1):c.*82C>T rs111649895
NM_139343.3(BIN1):c.1002+14C>T
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala)
NM_139343.3(BIN1):c.1020A>G (p.Pro340=)
NM_139343.3(BIN1):c.1052A>C (p.Lys351Thr)
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn) rs121909273
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu) rs886043420
NM_139343.3(BIN1):c.1077C>T (p.Leu359=)
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly) rs1553456782
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg)
NM_139343.3(BIN1):c.1121C>T (p.Thr374Ile)
NM_139343.3(BIN1):c.1122C>T (p.Thr374=) rs1386270090
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg) rs2104935838
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu)
NM_139343.3(BIN1):c.1131+13C>T
NM_139343.3(BIN1):c.1131+14_1131+22del rs751183383
NM_139343.3(BIN1):c.1131+16C>T
NM_139343.3(BIN1):c.1131+18C>A rs191760397
NM_139343.3(BIN1):c.1131+7_1131+26del rs555116802
NM_139343.3(BIN1):c.1132-12G>C
NM_139343.3(BIN1):c.1132-22TGC[7] rs748026377
NM_139343.3(BIN1):c.1132-22TGC[8] rs748026377
NM_139343.3(BIN1):c.1132-2A>G rs1295546366
NM_139343.3(BIN1):c.1132-5C>T
NM_139343.3(BIN1):c.1132-8C>T rs1573549844
NM_139343.3(BIN1):c.1137G>T (p.Glu379Asp)
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu)
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr) rs1573549506
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser) rs1573549506
NM_139343.3(BIN1):c.1159C>G (p.Gln387Glu)
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr)
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr) rs1683302135
NM_139343.3(BIN1):c.11T>C (p.Met4Thr)
NM_139343.3(BIN1):c.1200C>T (p.Pro400=)
NM_139343.3(BIN1):c.1201G>A (p.Val401Met)
NM_139343.3(BIN1):c.1206G>A (p.Thr402=)
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn)
NM_139343.3(BIN1):c.1213G>A (p.Val405Met)
NM_139343.3(BIN1):c.1218G>A (p.Lys406=)
NM_139343.3(BIN1):c.1227G>A (p.Thr409=)
NM_139343.3(BIN1):c.1228C>T (p.Pro410Ser)
NM_139343.3(BIN1):c.1239+13C>T
NM_139343.3(BIN1):c.1239+15_1239+24del rs964389278
NM_139343.3(BIN1):c.1239+16C>A rs550357998
NM_139343.3(BIN1):c.1239+17A>G
NM_139343.3(BIN1):c.1240-20G>A rs377476606
NM_139343.3(BIN1):c.1240-6G>A rs548956444
NM_139343.3(BIN1):c.1240-6G>T rs548956444
NM_139343.3(BIN1):c.1240-9T>C rs1360673670
NM_139343.3(BIN1):c.1248A>C (p.Pro416=)
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter) rs2104891817
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys)
NM_139343.3(BIN1):c.1263+12G>A
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_139343.3(BIN1):c.1264-12G>T rs765093822
NM_139343.3(BIN1):c.1264-16C>T
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn)
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr) rs1240564481
NM_139343.3(BIN1):c.1317G>A (p.Glu439=)
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu)
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val) rs758494519
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr) rs1158338100
NM_139343.3(BIN1):c.1335C>T (p.Ser445=)
NM_139343.3(BIN1):c.1342A>C (p.Ser448Arg)
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys) rs750715069
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)
NM_139343.3(BIN1):c.1353C>G (p.Ala451=) rs552244334
NM_139343.3(BIN1):c.1362G>C (p.Gly454=) rs61748155
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr)
NM_139343.3(BIN1):c.1371+10C>G rs1573539169
NM_139343.3(BIN1):c.1371+13C>T
NM_139343.3(BIN1):c.1372-15G>A
NM_139343.3(BIN1):c.1372-17C>T
NM_139343.3(BIN1):c.1372-1G>A rs1682909859
NM_139343.3(BIN1):c.1382C>T (p.Ala461Val)
NM_139343.3(BIN1):c.1395G>A (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala)
NM_139343.3(BIN1):c.1413G>A (p.Ala471=)
NM_139343.3(BIN1):c.142G>A (p.Val48Ile)
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys) rs865803817
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys)
NM_139343.3(BIN1):c.1461+16C>T rs2104866756
NM_139343.3(BIN1):c.1461+20G>A rs2104866729
NM_139343.3(BIN1):c.1462-13C>T
NM_139343.3(BIN1):c.1470del (p.Pro491fs)
NM_139343.3(BIN1):c.1472del (p.Pro491fs) rs1682848303
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala) rs1682847067
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu) rs1191840422
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
NM_139343.3(BIN1):c.1494C>T (p.Phe498=)
NM_139343.3(BIN1):c.14_15delinsAG (p.Gly5Glu)
NM_139343.3(BIN1):c.1510G>A (p.Gly504Ser)
NM_139343.3(BIN1):c.1515C>G (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.1515C>T (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.1524C>T (p.Gly508=)
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu)
NM_139343.3(BIN1):c.1557A>C (p.Pro519=)
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
NM_139343.3(BIN1):c.1560T>G (p.Gly520=) rs1573530113
NM_139343.3(BIN1):c.156C>T (p.Asn52=)
NM_139343.3(BIN1):c.1573-13G>A
NM_139343.3(BIN1):c.1573-19C>T
NM_139343.3(BIN1):c.1573-63C>T rs7558000
NM_139343.3(BIN1):c.1573-72C>T rs7558001
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val) rs2104859449
NM_139343.3(BIN1):c.1583A>G (p.Gln528Arg)
NM_139343.3(BIN1):c.1595C>A (p.Thr532Lys)
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile) rs773732601
NM_139343.3(BIN1):c.160C>G (p.Gln54Glu)
NM_139343.3(BIN1):c.1620G>T (p.Gln540His)
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu) rs1445898966
NM_139343.3(BIN1):c.165+13G>A rs2105143217
NM_139343.3(BIN1):c.165+17C>T
NM_139343.3(BIN1):c.165+1G>A
NM_139343.3(BIN1):c.165+20G>A
NM_139343.3(BIN1):c.166-10C>T
NM_139343.3(BIN1):c.166-16G>T
NM_139343.3(BIN1):c.166-20C>A
NM_139343.3(BIN1):c.1663C>T (p.Pro555Ser)
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys) rs1682762039
NM_139343.3(BIN1):c.1674+13T>A
NM_139343.3(BIN1):c.1674+19C>T
NM_139343.3(BIN1):c.1674+7G>C
NM_139343.3(BIN1):c.1675-16G>A
NM_139343.3(BIN1):c.1675-2A>G
NM_139343.3(BIN1):c.1675-9G>A
NM_139343.3(BIN1):c.1675G>A (p.Asp559Asn)
NM_139343.3(BIN1):c.167C>T (p.Thr56Met)
NM_139343.3(BIN1):c.168G>A (p.Thr56=) rs528828320
NM_139343.3(BIN1):c.1692G>A (p.Met564Ile)
NM_139343.3(BIN1):c.1695C>A (p.Gly565=)
NM_139343.3(BIN1):c.1695C>T (p.Gly565=)
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu) rs761759946
NM_139343.3(BIN1):c.1707C>T (p.Ser569=)
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn) rs368983991
NM_139343.3(BIN1):c.1712G>A (p.Trp571Ter)
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) rs587783343
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu) rs2104840053
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val) rs775119768
NM_139343.3(BIN1):c.173G>T (p.Gly58Val) rs1282156307
NM_139343.3(BIN1):c.1746C>T (p.Gly582=)
NM_139343.3(BIN1):c.1752C>T (p.Phe584=) rs1422298151
NM_139343.3(BIN1):c.1755C>T (p.Pro585=)
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)
NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly) rs2104839547
NM_139343.3(BIN1):c.1773G>A (p.Arg591=)
NM_139343.3(BIN1):c.1774G>T (p.Val592Phe)
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)
NM_139343.3(BIN1):c.177C>G (p.Thr59=)
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln) rs1558835946
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile) rs2105078067
NM_139343.3(BIN1):c.196C>T (p.Arg66Trp)
NM_139343.3(BIN1):c.213C>G (p.Ser71=)
NM_139343.3(BIN1):c.213C>T (p.Ser71=) rs560078675
NM_139343.3(BIN1):c.220+15_220+21del
NM_139343.3(BIN1):c.220+19G>A rs775915004
NM_139343.3(BIN1):c.220+4G>A
NM_139343.3(BIN1):c.222C>T (p.Ala74=) rs2105076332
NM_139343.3(BIN1):c.224T>C (p.Met75Thr) rs1024658796
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys) rs1685759135
NM_139343.3(BIN1):c.229G>T (p.Glu77Ter)
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe) rs1377099769
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)
NM_139343.3(BIN1):c.252G>A (p.Glu84=)
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter) rs2105075896
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn) rs774273606
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu) rs770994335
NM_139343.3(BIN1):c.27G>A (p.Val9=)
NM_139343.3(BIN1):c.284C>T (p.Pro95Leu)
NM_139343.3(BIN1):c.285C>A (p.Pro95=) rs377467117
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys) rs1681237812
NM_139343.3(BIN1):c.29C>T (p.Thr10Met)
NM_139343.3(BIN1):c.309C>A (p.Ile103=)
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr) rs754932468
NM_139343.3(BIN1):c.310G>T (p.Ala104Ser)
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys) rs1685745258
NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu)
NM_139343.3(BIN1):c.315+3G>C rs764821578
NM_139343.3(BIN1):c.315+7A>C rs1573647825
NM_139343.3(BIN1):c.316-11G>T
NM_139343.3(BIN1):c.316-15T>C
NM_139343.3(BIN1):c.316-20C>T
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln) rs2105070437
NM_139343.3(BIN1):c.330G>C (p.Leu110=) rs746946704
NM_139343.3(BIN1):c.345C>T (p.His115=)
NM_139343.3(BIN1):c.366G>A (p.Ala122=)
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
NM_139343.3(BIN1):c.380A>G (p.Asp127Gly)
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs) rs761813363
NM_139343.3(BIN1):c.385T>C (p.Tyr129His) rs2105069995
NM_139343.3(BIN1):c.399C>T (p.Phe133=) rs755303195
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)
NM_139343.3(BIN1):c.411+15T>G
NM_139343.3(BIN1):c.411+1G>T
NM_139343.3(BIN1):c.411+5G>C
NM_139343.3(BIN1):c.412-11G>C rs2105059266
NM_139343.3(BIN1):c.412-15C>T
NM_139343.3(BIN1):c.412-4C>T
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu) rs1407049344
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg) rs1685516968
NM_139343.3(BIN1):c.430_432del (p.Gly144del) rs1685516331
NM_139343.3(BIN1):c.432G>A (p.Gly144=) rs758913903
NM_139343.3(BIN1):c.432G>T (p.Gly144=)
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.444G>T (p.Val148=)
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn) rs121909274
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp) rs761914168
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_139343.3(BIN1):c.469T>C (p.Tyr157His) rs1553466026
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe) rs1685511003
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del) rs775374523
NM_139343.3(BIN1):c.504A>G (p.Glu168=)
NM_139343.3(BIN1):c.506C>A (p.Ala169Asp)
NM_139343.3(BIN1):c.519+15C>T
NM_139343.3(BIN1):c.519+16G>C
NM_139343.3(BIN1):c.519+6G>T
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys) rs2105378914
NM_139343.3(BIN1):c.520-13C>T
NM_139343.3(BIN1):c.520-4C>T
NM_139343.3(BIN1):c.520-8C>T rs769133774
NM_139343.3(BIN1):c.520-9C>G rs1685399315
NM_139343.3(BIN1):c.528G>T (p.Ser176=)
NM_139343.3(BIN1):c.552G>C (p.Gln184His)
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu) rs2105378861
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser)
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile) rs2105049284
NM_139343.3(BIN1):c.5C>T (p.Ala2Val)
NM_139343.3(BIN1):c.603C>T (p.Leu201=)
NM_139343.3(BIN1):c.612+14C>T
NM_139343.3(BIN1):c.612+18C>A rs572040801
NM_139343.3(BIN1):c.612+18C>T
NM_139343.3(BIN1):c.612+19C>G
NM_139343.3(BIN1):c.613-15C>T
NM_139343.3(BIN1):c.613-7C>T
NM_139343.3(BIN1):c.615C>G (p.Ala205=) rs748308882
NM_139343.3(BIN1):c.618G>A (p.Glu206=)
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln)
NM_139343.3(BIN1):c.630C>T (p.Ile210=) rs886038728
NM_139343.3(BIN1):c.660T>C (p.Asn220=) rs1573611005
NM_139343.3(BIN1):c.662T>A (p.Val221Glu)
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu) rs376323215
NM_139343.3(BIN1):c.669G>A (p.Leu223=) rs1573610955
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.698+19C>T rs2105007728
NM_139343.3(BIN1):c.698+7C>T rs2105007972
NM_139343.3(BIN1):c.698+9_698+10inv
NM_139343.3(BIN1):c.699-12G>A
NM_139343.3(BIN1):c.701G>A (p.Arg234His)
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly) rs2105378684
NM_139343.3(BIN1):c.70C>T (p.Arg24Cys)
NM_139343.3(BIN1):c.723G>A (p.Thr241=) rs370016618
NM_139343.3(BIN1):c.727C>G (p.Gln243Glu)
NM_139343.3(BIN1):c.72C>T (p.Arg24=) rs1681233008
NM_139343.3(BIN1):c.737C>T (p.Ala246Val)
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp) rs1684781364
NM_139343.3(BIN1):c.741C>G (p.Gly247=) rs766037529
NM_139343.3(BIN1):c.759C>T (p.His253=)
NM_139343.3(BIN1):c.769A>G (p.Ser257Gly)
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn) rs761203710
NM_139343.3(BIN1):c.774+16C>T rs1482374716
NM_139343.3(BIN1):c.774+9T>C
NM_139343.3(BIN1):c.775-13G>T rs778119265
NM_139343.3(BIN1):c.775-19C>T
NM_139343.3(BIN1):c.775-6C>G rs753202898
NM_139343.3(BIN1):c.775-7C>G rs1684594015
NM_139343.3(BIN1):c.775-8T>C
NM_139343.3(BIN1):c.779A>T (p.Asn260Ile)
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)
NM_139343.3(BIN1):c.789C>T (p.Leu263=)
NM_139343.3(BIN1):c.808C>T (p.Leu270=)
NM_139343.3(BIN1):c.821A>G (p.His274Arg)
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp) rs771506242
NM_139343.3(BIN1):c.84+10C>A
NM_139343.3(BIN1):c.84+11C>T
NM_139343.3(BIN1):c.84+13G>A
NM_139343.3(BIN1):c.84+14A>T rs2105378351
NM_139343.3(BIN1):c.84+16C>A
NM_139343.3(BIN1):c.84+16C>G
NM_139343.3(BIN1):c.84+19dup rs751236360
NM_139343.3(BIN1):c.84+4286_84+4287delinsAT
NM_139343.3(BIN1):c.84+6C>A
NM_139343.3(BIN1):c.84+9G>A rs762680903
NM_139343.3(BIN1):c.840G>A (p.Thr280=)
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr)
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn) rs1681229622
NM_139343.3(BIN1):c.85-18C>G rs953081488
NM_139343.3(BIN1):c.857+12G>A
NM_139343.3(BIN1):c.857+18C>T rs1244052584
NM_139343.3(BIN1):c.857+4C>G
NM_139343.3(BIN1):c.857+5G>A
NM_139343.3(BIN1):c.857+8C>T
NM_139343.3(BIN1):c.858-10T>C
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser) rs2104954121
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr)
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr) rs1462533329
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly) rs1259572705
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr)
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile) rs199551366
NM_139343.3(BIN1):c.935T>G (p.Val312Gly)
NM_139343.3(BIN1):c.939C>T (p.Asn313=)
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys) rs769801396
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln) rs769801396
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu)
NM_139343.3(BIN1):c.954G>A (p.Pro318=)
NM_139343.3(BIN1):c.957C>A (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.957C>G (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.958G>A (p.Gly320Ser)
NM_139343.3(BIN1):c.965C>T (p.Ala322Val) rs1684085224
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del)
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr)
NM_139343.3(BIN1):c.992C>G (p.Ser331Cys)
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp) rs558639756

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