ClinVar Miner

List of variants studied for myopathy, centronuclear, 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 535
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.84+4287G>T rs755639 0.56496
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
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.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_139343.3(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.1292C>T (p.Pro431Leu) rs141119288 0.00043
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.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.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.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.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.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.1003-6C>A rs1406716458 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.1305C>T (p.Pro435=) rs1202386291 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.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.(?_127806092)_(127834292_?)dup
NC_000002.11:g.(?_127806102)_(127864519_?)dup
NC_000002.11:g.(?_127806102)_(128432598_?)del
NC_000002.11:g.(?_127815029)_(127864539_?)dup
NC_000002.11:g.(?_127821127)_(127834302_?)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.1002+14C>T
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.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.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.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.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.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.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.1726_1727delinsTT (p.Glu576Leu) rs2104840053
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.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.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.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.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.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.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.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.958G>A (p.Gly320Ser)
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

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.