ClinVar Miner

List of variants reported as likely benign for myopathy, centronuclear, 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_139343.2(BIN1):c.-389T>A rs56827597 0.08511
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.1540C>T (p.Arg514Cys) rs148422103 0.00152
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.906C>T (p.Gly302=) rs371258305 0.00031
NM_139343.3(BIN1):c.1385C>T (p.Ser462Leu) rs200580275 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.1143G>A (p.Pro381=) rs372360787 0.00018
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_139343.3(BIN1):c.1003-11C>G rs759676621 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.1047G>A (p.Pro349=) rs148945502 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
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.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.1587C>T (p.His529=) rs144458131 0.00007
NM_139343.3(BIN1):c.309C>T (p.Ile103=) rs151288388 0.00007
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.1479C>T (p.Val493=) rs773313892 0.00006
NM_139343.3(BIN1):c.327G>A (p.Leu109=) rs920170949 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.1132-6_1132-4dup rs765093741 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.1462-17C>T rs757885823 0.00004
NM_139343.3(BIN1):c.1573-14C>T rs760955602 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.903T>C (p.Asp301=) rs141588262 0.00004
NM_139343.3(BIN1):c.960C>T (p.Gly320=) rs758286460 0.00004
NM_139343.3(BIN1):c.972C>T (p.Pro324=) rs537603056 0.00004
NM_139343.3(BIN1):c.1197G>A (p.Pro399=) rs370728071 0.00003
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862 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.615C>T (p.Ala205=) rs748308882 0.00003
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522 0.00003
NM_139343.3(BIN1):c.867G>A (p.Ala289=) rs201839857 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.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.1548C>T (p.Asp516=) rs750869889 0.00002
NM_139343.3(BIN1):c.220+18C>T rs761189061 0.00002
NM_139343.3(BIN1):c.321C>T (p.Asn107=) rs529323298 0.00002
NM_139343.3(BIN1):c.613-14G>A rs770168243 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.1092C>T (p.Asp364=) rs745647728 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.1119C>T (p.Thr373=) rs1444368852 0.00001
NM_139343.3(BIN1):c.1188C>T (p.Asp396=) rs1321356771 0.00001
NM_139343.3(BIN1):c.1239+12C>T rs1051734043 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.141C>T (p.Cys47=) rs747090652 0.00001
NM_139343.3(BIN1):c.1443G>A (p.Ala481=) rs765816262 0.00001
NM_139343.3(BIN1):c.1536C>T (p.Ala512=) rs753612525 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.166-13C>T rs1182776886 0.00001
NM_139343.3(BIN1):c.1675-7C>T rs372449622 0.00001
NM_139343.3(BIN1):c.1698G>A (p.Val566=) rs1398854153 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.405C>T (p.Asp135=) rs956631103 0.00001
NM_139343.3(BIN1):c.546C>T (p.Ala182=) rs147149003 0.00001
NM_139343.3(BIN1):c.570G>T (p.Leu190=) rs767620839 0.00001
NM_139343.3(BIN1):c.582C>T (p.Leu194=) rs1319287534 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.702C>T (p.Arg234=) rs775573748 0.00001
NM_139343.3(BIN1):c.738G>A (p.Ala246=) rs751182086 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.804C>T (p.Val268=) rs761683510 0.00001
NM_139343.3(BIN1):c.85-14C>T rs1191884719 0.00001
NM_139343.3(BIN1):c.864C>T (p.Asn288=) rs746393271 0.00001
NM_139343.3(BIN1):c.975G>A (p.Gly325=) rs771288492 0.00001
NM_139343.3(BIN1):c.1002+14C>T
NM_139343.3(BIN1):c.1020A>G (p.Pro340=)
NM_139343.3(BIN1):c.1077C>T (p.Leu359=)
NM_139343.3(BIN1):c.1122C>T (p.Thr374=) rs1386270090
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[8] rs748026377
NM_139343.3(BIN1):c.1132-5C>T
NM_139343.3(BIN1):c.1132-8C>T rs1573549844
NM_139343.3(BIN1):c.1200C>T (p.Pro400=)
NM_139343.3(BIN1):c.1206G>A (p.Thr402=)
NM_139343.3(BIN1):c.1218G>A (p.Lys406=)
NM_139343.3(BIN1):c.1227G>A (p.Thr409=)
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.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.1317G>A (p.Glu439=)
NM_139343.3(BIN1):c.1335C>T (p.Ser445=)
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.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.1395G>A (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1413G>A (p.Ala471=)
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.1494C>T (p.Phe498=)
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.1557A>C (p.Pro519=)
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.165+13G>A rs2105143217
NM_139343.3(BIN1):c.165+17C>T
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.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.1675-9G>A
NM_139343.3(BIN1):c.168G>A (p.Thr56=) rs528828320
NM_139343.3(BIN1):c.1695C>A (p.Gly565=)
NM_139343.3(BIN1):c.1695C>T (p.Gly565=)
NM_139343.3(BIN1):c.1707C>T (p.Ser569=)
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.1773G>A (p.Arg591=)
NM_139343.3(BIN1):c.177C>G (p.Thr59=)
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.222C>T (p.Ala74=) rs2105076332
NM_139343.3(BIN1):c.252G>A (p.Glu84=)
NM_139343.3(BIN1):c.27G>A (p.Val9=)
NM_139343.3(BIN1):c.285C>A (p.Pro95=) rs377467117
NM_139343.3(BIN1):c.309C>A (p.Ile103=)
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.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.399C>T (p.Phe133=) rs755303195
NM_139343.3(BIN1):c.411+15T>G
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.432G>A (p.Gly144=) rs758913903
NM_139343.3(BIN1):c.432G>T (p.Gly144=)
NM_139343.3(BIN1):c.444G>T (p.Val148=)
NM_139343.3(BIN1):c.504A>G (p.Glu168=)
NM_139343.3(BIN1):c.519+15C>T
NM_139343.3(BIN1):c.519+16G>C
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.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.630C>T (p.Ile210=) rs886038728
NM_139343.3(BIN1):c.660T>C (p.Asn220=) rs1573611005
NM_139343.3(BIN1):c.669G>A (p.Leu223=) rs1573610955
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.723G>A (p.Thr241=) rs370016618
NM_139343.3(BIN1):c.72C>T (p.Arg24=) rs1681233008
NM_139343.3(BIN1):c.741C>G (p.Gly247=) rs766037529
NM_139343.3(BIN1):c.759C>T (p.His253=)
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.789C>T (p.Leu263=)
NM_139343.3(BIN1):c.808C>T (p.Leu270=)
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+16C>A
NM_139343.3(BIN1):c.84+16C>G
NM_139343.3(BIN1):c.84+19dup rs751236360
NM_139343.3(BIN1):c.840G>A (p.Thr280=)
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+8C>T
NM_139343.3(BIN1):c.858-10T>C
NM_139343.3(BIN1):c.939C>T (p.Asn313=)
NM_139343.3(BIN1):c.954G>A (p.Pro318=)

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