ClinVar Miner

List of variants reported as likely benign for centronuclear myopathy

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 803
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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_005876.5(SPEG):c.6692C>A (p.Pro2231His) rs183551699 0.01350
NM_002469.3(MYF6):c.544A>C (p.Thr182Pro) rs141278987 0.00283
NM_001378030.1(CCDC78):c.492+1G>A rs138669350 0.00180
NM_001378030.1(CCDC78):c.737G>A (p.Arg246Gln) rs147606575 0.00180
NM_001378030.1(CCDC78):c.1238G>A (p.Arg413Gln) rs148276717 0.00171
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001378030.1(CCDC78):c.1043G>A (p.Arg348Gln) rs142170929 0.00154
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys) rs148422103 0.00152
NM_001378030.1(CCDC78):c.755G>A (p.Trp252Ter) rs142133229 0.00125
NM_005876.5(SPEG):c.2572C>T (p.Arg858Cys) rs199582765 0.00124
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) rs28928909 0.00121
NM_002469.3(MYF6):c.559T>A (p.Trp187Arg) rs143677057 0.00111
NM_001378030.1(CCDC78):c.1245G>A (p.Thr415=) rs146067716 0.00088
NM_001378030.1(CCDC78):c.308G>A (p.Arg103Gln) rs151206197 0.00087
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp) rs138296448 0.00077
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp) rs181469519 0.00068
NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile) rs145112523 0.00066
NM_002469.3(MYF6):c.528T>C (p.Gly176=) rs145205388 0.00060
NM_139343.3(BIN1):c.471C>T (p.Tyr157=) rs138885327 0.00058
NM_001378030.1(CCDC78):c.1302-8C>A rs201006875 0.00057
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His) rs150304459 0.00055
NM_001378030.1(CCDC78):c.183C>G (p.Ile61Met) rs140761899 0.00052
NM_001378030.1(CCDC78):c.918G>C (p.Leu306=) rs139766874 0.00049
NM_001378030.1(CCDC78):c.1220G>A (p.Arg407Gln) rs141141442 0.00048
NM_002469.3(MYF6):c.347T>C (p.Leu116Pro) rs200372502 0.00043
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) rs141119288 0.00043
NM_001378030.1(CCDC78):c.492C>T (p.Gly164=) rs144396385 0.00041
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043 0.00041
NM_001378030.1(CCDC78):c.200A>G (p.Asp67Gly) rs150363147 0.00037
NM_001378030.1(CCDC78):c.575G>A (p.Arg192Gln) rs144643237 0.00037
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NM_002469.3(MYF6):c.79G>A (p.Val27Met) rs147184101 0.00029
NM_139343.3(BIN1):c.1385C>T (p.Ser462Leu) rs200580275 0.00029
NM_001378030.1(CCDC78):c.861C>T (p.Ser287=) rs375625161 0.00026
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_139343.3(BIN1):c.402C>T (p.Pro134=) rs144136512 0.00023
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_001378030.1(CCDC78):c.866A>T (p.Glu289Val) rs371760552 0.00022
NM_139343.3(BIN1):c.1131+7C>T rs376590911 0.00021
NM_001378030.1(CCDC78):c.927G>A (p.Arg309=) rs376047604 0.00019
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_001005361.3(DNM2):c.528C>T (p.Pro176=) rs147579870 0.00015
NM_000252.3(MTM1):c.423G>A (p.Ala141=) rs377311110 0.00014
NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=) rs760280521 0.00014
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397 0.00014
NM_001378030.1(CCDC78):c.1189C>T (p.Arg397Cys) rs559942514 0.00013
NM_001378030.1(CCDC78):c.472C>T (p.Gln158Ter) rs200825023 0.00013
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
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_001378030.1(CCDC78):c.668G>A (p.Arg223His) rs373278585 0.00010
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_001005361.3(DNM2):c.2313G>A (p.Pro771=) rs147463138 0.00009
NM_001378030.1(CCDC78):c.47G>A (p.Arg16Gln) rs117949611 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.85-6C>T rs200855894 0.00009
NM_001378030.1(CCDC78):c.642G>A (p.Val214=) rs142353908 0.00008
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_001378030.1(CCDC78):c.766-8G>A rs371640942 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_000252.3(MTM1):c.1455T>C (p.Ala485=) rs141358705 0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763 0.00006
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln) rs372053838 0.00006
NM_001077525.3(MTMR14):c.1144C>T (p.Arg382Trp) rs757251437 0.00006
NM_001378030.1(CCDC78):c.1143C>T (p.Asp381=) rs530313895 0.00006
NM_001378030.1(CCDC78):c.180+9G>A rs374903815 0.00006
NM_001378030.1(CCDC78):c.832C>T (p.Leu278=) rs201042133 0.00006
NM_001378030.1(CCDC78):c.856C>T (p.Arg286Cys) rs540243094 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.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_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785 0.00005
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390 0.00005
NM_000252.3(MTM1):c.232-7A>G rs373045797 0.00005
NM_000252.3(MTM1):c.285A>G (p.Lys95=) rs1292849674 0.00005
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe) rs144473998 0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349 0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952 0.00005
NM_001378030.1(CCDC78):c.1276G>A (p.Glu426Lys) rs374749282 0.00005
NM_001378030.1(CCDC78):c.612C>T (p.Ala204=) rs765213341 0.00005
NM_002469.3(MYF6):c.172G>A (p.Gly58Arg) rs578239628 0.00005
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_000252.3(MTM1):c.1383A>G (p.Gln461=) rs782410861 0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) rs140744506 0.00004
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.66G>A (p.Thr22=) rs781793926 0.00004
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_001378030.1(CCDC78):c.1133+7G>A rs374450678 0.00004
NM_001378030.1(CCDC78):c.294G>A (p.Leu98=) rs140303460 0.00004
NM_001378030.1(CCDC78):c.567C>T (p.Thr189=) rs748680465 0.00004
NM_001378030.1(CCDC78):c.729C>T (p.Tyr243=) rs376412009 0.00004
NM_001378030.1(CCDC78):c.810C>A (p.Leu270=) rs372703744 0.00004
NM_001378030.1(CCDC78):c.812G>A (p.Arg271Gln) rs764422260 0.00004
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_000252.3(MTM1):c.1629C>T (p.Pro543=) rs781856935 0.00003
NM_000252.3(MTM1):c.1779G>A (p.Ser593=) rs782375296 0.00003
NM_000252.3(MTM1):c.445-17T>G rs73250563 0.00003
NM_000252.3(MTM1):c.480C>T (p.Asn160=) rs782480422 0.00003
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_000252.3(MTM1):c.64-9T>C rs189752798 0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=) rs202214529 0.00003
NM_001378030.1(CCDC78):c.1009T>C (p.Leu337=) rs752141177 0.00003
NM_001378030.1(CCDC78):c.1237C>T (p.Arg413Trp) rs780967551 0.00003
NM_001378030.1(CCDC78):c.267+10C>T rs199497862 0.00003
NM_001378030.1(CCDC78):c.666C>G (p.Leu222=) rs778705590 0.00003
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_000252.3(MTM1):c.1077A>G (p.Gln359=) rs1299457466 0.00002
NM_000252.3(MTM1):c.1560A>G (p.Arg520=) rs138946055 0.00002
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) rs1557415136 0.00002
NM_000252.3(MTM1):c.1758A>G (p.Pro586=) rs1454805516 0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=) rs781784303 0.00002
NM_000252.3(MTM1):c.51G>A (p.Glu17=) rs148455726 0.00002
NM_000252.3(MTM1):c.528+7T>C rs782460237 0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=) rs374360983 0.00002
NM_000252.3(MTM1):c.813T>C (p.Ile271=) rs1224173755 0.00002
NM_001005361.3(DNM2):c.1671+14G>A rs767768534 0.00002
NM_001378030.1(CCDC78):c.1014C>T (p.Pro338=) rs764805299 0.00002
NM_001378030.1(CCDC78):c.1053+13A>G rs769940521 0.00002
NM_001378030.1(CCDC78):c.1133+16G>T rs778741526 0.00002
NM_001378030.1(CCDC78):c.141C>T (p.Val47=) rs765250833 0.00002
NM_001378030.1(CCDC78):c.180+20G>A rs753155679 0.00002
NM_001378030.1(CCDC78):c.181-14C>T rs776154471 0.00002
NM_001378030.1(CCDC78):c.246A>C (p.Glu82Asp) rs201503907 0.00002
NM_001378030.1(CCDC78):c.303G>A (p.Glu101=) rs1391537464 0.00002
NM_001378030.1(CCDC78):c.348G>A (p.Glu116=) rs755948173 0.00002
NM_001378030.1(CCDC78):c.435+19A>C rs199988256 0.00002
NM_001378030.1(CCDC78):c.765+9T>C rs765738306 0.00002
NM_002469.3(MYF6):c.355C>A (p.Arg119=) rs766453673 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.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.393C>T (p.Gly131=) rs1455926606 0.00002
NM_139343.3(BIN1):c.613-14G>A rs770168243 0.00002
NM_000252.3(MTM1):c.1008T>C (p.His336=) rs1557414128 0.00001
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.111A>G (p.Arg37=) rs2038979283 0.00001
NM_000252.3(MTM1):c.1131C>T (p.Asp377=) rs1557414507 0.00001
NM_000252.3(MTM1):c.1194G>A (p.Arg398=) rs1557414516 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1260+7A>T rs782771099 0.00001
NM_000252.3(MTM1):c.126A>G (p.Thr42=) rs782801257 0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419 0.00001
NM_000252.3(MTM1):c.1353+7A>C rs782203723 0.00001
NM_000252.3(MTM1):c.1354-6G>A rs1235590737 0.00001
NM_000252.3(MTM1):c.136+10T>G rs782382879 0.00001
NM_000252.3(MTM1):c.136+7A>T rs782025629 0.00001
NM_000252.3(MTM1):c.1678C>T (p.Leu560Phe) rs1557415135 0.00001
NM_000252.3(MTM1):c.1719A>G (p.Glu573=) rs1557415144 0.00001
NM_000252.3(MTM1):c.1740C>G (p.Ala580=) rs782365703 0.00001
NM_000252.3(MTM1):c.231+10A>G rs1231679121 0.00001
NM_000252.3(MTM1):c.272C>T (p.Ser91Leu) rs782148152 0.00001
NM_000252.3(MTM1):c.420C>T (p.Tyr140=) rs587783825 0.00001
NM_000252.3(MTM1):c.426T>C (p.Phe142=) rs1443261976 0.00001
NM_000252.3(MTM1):c.444+16C>G rs1057523163 0.00001
NM_000252.3(MTM1):c.447A>G (p.Pro149=) rs782149231 0.00001
NM_000252.3(MTM1):c.570G>A (p.Lys190=) rs782411810 0.00001
NM_000252.3(MTM1):c.603T>C (p.Leu201=) rs1557413854 0.00001
NM_000252.3(MTM1):c.681G>C (p.Val227=) rs1557413955 0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=) rs187394611 0.00001
NM_000252.3(MTM1):c.788T>G (p.Val263Gly) rs782573475 0.00001
NM_000252.3(MTM1):c.867+8G>A rs782431909 0.00001
NM_000252.3(MTM1):c.868-9del rs1372652199 0.00001
NM_000252.3(MTM1):c.885T>C (p.Tyr295=) rs1017890631 0.00001
NM_000252.3(MTM1):c.909C>T (p.Asn303=) rs199984259 0.00001
NM_000252.3(MTM1):c.945T>C (p.His315=) rs376178048 0.00001
NM_000252.3(MTM1):c.954G>C (p.Arg318=) rs1557414126 0.00001
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=) rs767407905 0.00001
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=) rs201604679 0.00001
NM_001378030.1(CCDC78):c.1020C>T (p.Pro340=) rs1319236751 0.00001
NM_001378030.1(CCDC78):c.102G>C (p.Gly34=) rs558680404 0.00001
NM_001378030.1(CCDC78):c.1054-14A>G rs575159946 0.00001
NM_001378030.1(CCDC78):c.1083C>T (p.Ser361=) rs763378541 0.00001
NM_001378030.1(CCDC78):c.1133+13A>G rs747939934 0.00001
NM_001378030.1(CCDC78):c.1134-15C>G rs766085711 0.00001
NM_001378030.1(CCDC78):c.1200+12G>A rs746266109 0.00001
NM_001378030.1(CCDC78):c.1201-11C>A rs894597785 0.00001
NM_001378030.1(CCDC78):c.1201-1G>C rs763586611 0.00001
NM_001378030.1(CCDC78):c.1301+10G>A rs758288338 0.00001
NM_001378030.1(CCDC78):c.1302-10C>T rs1233846202 0.00001
NM_001378030.1(CCDC78):c.198C>T (p.Val66=) rs753929100 0.00001
NM_001378030.1(CCDC78):c.240G>A (p.Glu80=) rs1366295901 0.00001
NM_001378030.1(CCDC78):c.268-19C>A rs1396117099 0.00001
NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly) rs769964986 0.00001
NM_001378030.1(CCDC78):c.330C>T (p.Gly110=) rs1196046646 0.00001
NM_001378030.1(CCDC78):c.435+13A>G rs966308561 0.00001
NM_001378030.1(CCDC78):c.462C>T (p.Pro154=) rs199585619 0.00001
NM_001378030.1(CCDC78):c.493-8C>T rs1455612703 0.00001
NM_001378030.1(CCDC78):c.51G>A (p.Arg17=) rs949623191 0.00001
NM_001378030.1(CCDC78):c.552G>A (p.Val184=) rs528171965 0.00001
NM_001378030.1(CCDC78):c.560+11A>G rs745530216 0.00001
NM_001378030.1(CCDC78):c.561-9T>C rs1294551214 0.00001
NM_001378030.1(CCDC78):c.61-14C>T rs750092405 0.00001
NM_001378030.1(CCDC78):c.61-4C>A rs1227878128 0.00001
NM_001378030.1(CCDC78):c.640-11T>G rs375444284 0.00001
NM_001378030.1(CCDC78):c.640-13G>A rs775362271 0.00001
NM_001378030.1(CCDC78):c.765+19C>T rs760813011 0.00001
NM_001378030.1(CCDC78):c.765+7C>A rs1158312264 0.00001
NM_001378030.1(CCDC78):c.765+8C>G rs753039480 0.00001
NM_001378030.1(CCDC78):c.771C>T (p.His257=) rs747763912 0.00001
NM_001378030.1(CCDC78):c.804G>A (p.Thr268=) rs767497873 0.00001
NM_001378030.1(CCDC78):c.827C>T (p.Ala276Val) rs562625664 0.00001
NM_001378030.1(CCDC78):c.828G>A (p.Ala276=) rs746959349 0.00001
NM_001378030.1(CCDC78):c.882G>A (p.Arg294=) rs958395578 0.00001
NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro) rs780197880 0.00001
NM_002469.3(MYF6):c.369C>T (p.Asn123=) rs777383223 0.00001
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_000252.3(MTM1):c.102T>C (p.Ala34=)
NM_000252.3(MTM1):c.1047T>C (p.His349=)
NM_000252.3(MTM1):c.1053+14G>T
NM_000252.3(MTM1):c.1053+8T>C
NM_000252.3(MTM1):c.1054-15A>G
NM_000252.3(MTM1):c.1054-18C>G
NM_000252.3(MTM1):c.1054-4T>C
NM_000252.3(MTM1):c.1054-5G>C rs398123265
NM_000252.3(MTM1):c.1054-6dup
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.1056C>T (p.Leu352=) rs1216921434
NM_000252.3(MTM1):c.1062G>A (p.Leu354=) rs1603204575
NM_000252.3(MTM1):c.1065A>G (p.Thr355=) rs1603204585
NM_000252.3(MTM1):c.1086C>T (p.Asp362=) rs2148508590
NM_000252.3(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.3(MTM1):c.1122T>C (p.His374=) rs2040150089
NM_000252.3(MTM1):c.1149T>C (p.Ala383=)
NM_000252.3(MTM1):c.1153C>T (p.Leu385=)
NM_000252.3(MTM1):c.1158A>G (p.Thr386=)
NM_000252.3(MTM1):c.1179G>A (p.Leu393=)
NM_000252.3(MTM1):c.1245A>G (p.Gly415=) rs2148508923
NM_000252.3(MTM1):c.1260+10C>T
NM_000252.3(MTM1):c.1260+19T>C
NM_000252.3(MTM1):c.1261-10A>C
NM_000252.3(MTM1):c.1261-15C>T
NM_000252.3(MTM1):c.1261-18C>G
NM_000252.3(MTM1):c.1261-21_1261-16del
NM_000252.3(MTM1):c.1269T>A (p.Gly423=)
NM_000252.3(MTM1):c.129A>T (p.Leu43=)
NM_000252.3(MTM1):c.1302T>C (p.Arg434=) rs2148510860
NM_000252.3(MTM1):c.1323T>C (p.Phe441=)
NM_000252.3(MTM1):c.1329T>C (p.Asp443=)
NM_000252.3(MTM1):c.1353+14G>A
NM_000252.3(MTM1):c.1353+9T>A
NM_000252.3(MTM1):c.1354-19_1354-16del
NM_000252.3(MTM1):c.136+11G>C
NM_000252.3(MTM1):c.136+14G>A
NM_000252.3(MTM1):c.137-11dup rs797045716
NM_000252.3(MTM1):c.137-18del
NM_000252.3(MTM1):c.1392T>C (p.Ile464=) rs2148511855
NM_000252.3(MTM1):c.1419C>T (p.Cys473=)
NM_000252.3(MTM1):c.1449A>G (p.Glu483=) rs2148511948
NM_000252.3(MTM1):c.1467+17T>A
NM_000252.3(MTM1):c.1468-11TC[2] rs2148515446
NM_000252.3(MTM1):c.1468-12G>A
NM_000252.3(MTM1):c.1468-12G>C
NM_000252.3(MTM1):c.1468-12G>T
NM_000252.3(MTM1):c.1468-12_1468-11del
NM_000252.3(MTM1):c.1468-18_1468-13del
NM_000252.3(MTM1):c.1468-5T>C rs2148515462
NM_000252.3(MTM1):c.1468-8C>T rs1276451236
NM_000252.3(MTM1):c.147T>A (p.Val49=) rs2148434016
NM_000252.3(MTM1):c.1482G>A (p.Arg494=)
NM_000252.3(MTM1):c.1485T>A (p.Thr495=) rs2148515501
NM_000252.3(MTM1):c.1501C>T (p.Leu501=) rs2148515532
NM_000252.3(MTM1):c.1503G>C (p.Leu501=) rs2148515546
NM_000252.3(MTM1):c.1509C>T (p.Asn503=) rs1603208456
NM_000252.3(MTM1):c.1518A>G (p.Lys506=) rs2040257647
NM_000252.3(MTM1):c.1521A>G (p.Glu507=) rs2148515589
NM_000252.3(MTM1):c.153C>T (p.Tyr51=) rs2148434034
NM_000252.3(MTM1):c.1542T>C (p.Tyr514=)
NM_000252.3(MTM1):c.1551A>G (p.Glu517=) rs2040258177
NM_000252.3(MTM1):c.1558C>A (p.Arg520=) rs587783805
NM_000252.3(MTM1):c.1566A>G (p.Leu522=) rs2148515668
NM_000252.3(MTM1):c.1575T>A (p.Val525=)
NM_000252.3(MTM1):c.1578C>T (p.Ala526=) rs1603208507
NM_000252.3(MTM1):c.1591T>C (p.Leu531=) rs2040258987
NM_000252.3(MTM1):c.1596A>G (p.Glu532=)
NM_000252.3(MTM1):c.1599C>T (p.Leu533=) rs2148515718
NM_000252.3(MTM1):c.15A>C (p.Ser5=) rs2148425501
NM_000252.3(MTM1):c.1608T>C (p.Asn536=)
NM_000252.3(MTM1):c.1632G>A (p.Arg544=)
NM_000252.3(MTM1):c.1644+19T>G
NM_000252.3(MTM1):c.1645-13T>C
NM_000252.3(MTM1):c.1645-14_1645-13del
NM_000252.3(MTM1):c.1645-17T>A
NM_000252.3(MTM1):c.1645-17T>G
NM_000252.3(MTM1):c.1645-19A>C
NM_000252.3(MTM1):c.1650G>A (p.Pro550=) rs2040394486
NM_000252.3(MTM1):c.1662G>A (p.Glu554=) rs1603214698
NM_000252.3(MTM1):c.1665G>A (p.Gln555=)
NM_000252.3(MTM1):c.1680C>G (p.Leu560=)
NM_000252.3(MTM1):c.1683A>G (p.Leu561=) rs2148525035
NM_000252.3(MTM1):c.16A>G (p.Thr6Ala)
NM_000252.3(MTM1):c.1713T>C (p.Leu571=) rs1557415142
NM_000252.3(MTM1):c.171C>A (p.Gly57=) rs782505553
NM_000252.3(MTM1):c.1722G>A (p.Leu574=) rs781846889
NM_000252.3(MTM1):c.1728C>A (p.Leu576=)
NM_000252.3(MTM1):c.1728C>T (p.Leu576=) rs375031903
NM_000252.3(MTM1):c.1743G>A (p.Lys581=)
NM_000252.3(MTM1):c.1755C>A (p.Pro585=)
NM_000252.3(MTM1):c.1756C>T (p.Pro586Ser)
NM_000252.3(MTM1):c.1761T>G (p.Thr587=) rs2148525231
NM_000252.3(MTM1):c.1766C>G (p.Pro589Arg)
NM_000252.3(MTM1):c.1779G>T (p.Ser593=) rs782375296
NM_000252.3(MTM1):c.1791C>G (p.Pro597=)
NM_000252.3(MTM1):c.180G>A (p.Lys60=)
NM_000252.3(MTM1):c.1811del (p.Phe603_Ter604insTer)
NM_000252.3(MTM1):c.18T>A (p.Thr6=)
NM_000252.3(MTM1):c.214T>C (p.Leu72=)
NM_000252.3(MTM1):c.21T>G (p.Ser7=)
NM_000252.3(MTM1):c.231+8G>A rs2148434174
NM_000252.3(MTM1):c.232-11G>T
NM_000252.3(MTM1):c.232-8C>T rs782389461
NM_000252.3(MTM1):c.273G>A (p.Ser91=) rs1447559040
NM_000252.3(MTM1):c.27T>C (p.Tyr9=)
NM_000252.3(MTM1):c.294C>T (p.Gly98=)
NM_000252.3(MTM1):c.336T>A (p.Thr112=)
NM_000252.3(MTM1):c.342+12G>A
NM_000252.3(MTM1):c.342+17T>C
NM_000252.3(MTM1):c.342+19T>C
NM_000252.3(MTM1):c.342+19_342+22del
NM_000252.3(MTM1):c.342+9T>C rs2148456159
NM_000252.3(MTM1):c.342+9T>G
NM_000252.3(MTM1):c.343-12C>T rs2039433672
NM_000252.3(MTM1):c.343-16T>C
NM_000252.3(MTM1):c.345C>T (p.Asp115=) rs2148461700
NM_000252.3(MTM1):c.369G>A (p.Leu123=)
NM_000252.3(MTM1):c.375G>A (p.Gln125=)
NM_000252.3(MTM1):c.387C>T (p.Ser129=)
NM_000252.3(MTM1):c.396T>C (p.Asp132=)
NM_000252.3(MTM1):c.408C>T (p.Ile136=)
NM_000252.3(MTM1):c.411C>T (p.Leu137=)
NM_000252.3(MTM1):c.432G>T (p.Leu144=) rs2148461815
NM_000252.3(MTM1):c.444+10A>G rs782479470
NM_000252.3(MTM1):c.444+12T>C rs2148461835
NM_000252.3(MTM1):c.444+15T>C
NM_000252.3(MTM1):c.444+17T>C
NM_000252.3(MTM1):c.444+19C>G
NM_000252.3(MTM1):c.444+19_444+21del
NM_000252.3(MTM1):c.445-20T>C
NM_000252.3(MTM1):c.450A>G (p.Leu150=)
NM_000252.3(MTM1):c.456A>G (p.Ala152=)
NM_000252.3(MTM1):c.465T>C (p.Asn155=)
NM_000252.3(MTM1):c.466G>A (p.Glu156Lys)
NM_000252.3(MTM1):c.483G>A (p.Val161=)
NM_000252.3(MTM1):c.495A>G (p.Thr165=)
NM_000252.3(MTM1):c.501C>T (p.Tyr167=) rs2039803075
NM_000252.3(MTM1):c.504T>C (p.Asn168=)
NM_000252.3(MTM1):c.510G>A (p.Val170=)
NM_000252.3(MTM1):c.519C>T (p.Tyr173=) rs2148485835
NM_000252.3(MTM1):c.528+10dup
NM_000252.3(MTM1):c.528+13A>G
NM_000252.3(MTM1):c.528+13A>T
NM_000252.3(MTM1):c.528+17T>A rs2148485858
NM_000252.3(MTM1):c.528+18A>G
NM_000252.3(MTM1):c.528+18_528+22dup
NM_000252.3(MTM1):c.529-5C>T
NM_000252.3(MTM1):c.576T>C (p.Tyr192=) rs2148488477
NM_000252.3(MTM1):c.600T>G (p.Ala200=)
NM_000252.3(MTM1):c.619C>T (p.Arg207Cys) rs1470686963
NM_000252.3(MTM1):c.624C>T (p.Ala208=)
NM_000252.3(MTM1):c.63+16A>G
NM_000252.3(MTM1):c.63+21del
NM_000252.3(MTM1):c.636C>T (p.Asp212=)
NM_000252.3(MTM1):c.64-7T>C rs1603123969
NM_000252.3(MTM1):c.643A>C (p.Arg215=)
NM_000252.3(MTM1):c.664C>A (p.Arg222=) rs587783847
NM_000252.3(MTM1):c.675T>C (p.Ile225=)
NM_000252.3(MTM1):c.678+18C>T
NM_000252.3(MTM1):c.678+19G>A rs1215955664
NM_000252.3(MTM1):c.678+7A>G rs2148488635
NM_000252.3(MTM1):c.678+9T>C
NM_000252.3(MTM1):c.678+9T>G
NM_000252.3(MTM1):c.679-10T>G rs782314713
NM_000252.3(MTM1):c.679-19C>G
NM_000252.3(MTM1):c.679-22_679-17del
NM_000252.3(MTM1):c.684G>A (p.Leu228=) rs587783852
NM_000252.3(MTM1):c.687A>G (p.Ser229=)
NM_000252.3(MTM1):c.6T>C (p.Ala2=)
NM_000252.3(MTM1):c.6T>G (p.Ala2=)
NM_000252.3(MTM1):c.711G>A (p.Thr237=) rs1162408107
NM_000252.3(MTM1):c.717T>C (p.Ile239=) rs2148493140
NM_000252.3(MTM1):c.720G>A (p.Val240=) rs2148493142
NM_000252.3(MTM1):c.726C>T (p.Cys242=) rs2039919467
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser) rs368335697
NM_000252.3(MTM1):c.745A>G (p.Met249Val)
NM_000252.3(MTM1):c.753G>A (p.Gly251=) rs1603192655
NM_000252.3(MTM1):c.774G>A (p.Glu258=) rs2148493209
NM_000252.3(MTM1):c.784G>A (p.Asp262Asn)
NM_000252.3(MTM1):c.787G>A (p.Val263Ile)
NM_000252.3(MTM1):c.810A>G (p.Gln270=) rs782474609
NM_000252.3(MTM1):c.816T>G (p.Ser272=) rs2148493297
NM_000252.3(MTM1):c.825C>T (p.Thr275=) rs2148493322
NM_000252.3(MTM1):c.834T>C (p.Asp278=)
NM_000252.3(MTM1):c.843C>T (p.Pro281=)
NM_000252.3(MTM1):c.846C>T (p.Ser282=) rs375301020
NM_000252.3(MTM1):c.867+13_867+15del
NM_000252.3(MTM1):c.868-11T>C
NM_000252.3(MTM1):c.868-14A>G
NM_000252.3(MTM1):c.868-9_868-7del rs2148497680
NM_000252.3(MTM1):c.87A>C (p.Arg29=)
NM_000252.3(MTM1):c.894T>C (p.Asp298=)
NM_000252.3(MTM1):c.900A>G (p.Ala300=)
NM_000252.3(MTM1):c.912C>T (p.Ala304=) rs782504569
NM_000252.3(MTM1):c.930C>T (p.Asp310=) rs1603196546
NM_000252.3(MTM1):c.972G>A (p.Val324=)
NM_000252.3(MTM1):c.990T>C (p.Pro330=)
NM_000252.3(MTM1):c.996A>G (p.Val332=)
NM_000252.3(MTM1):c.99G>A (p.Glu33=)
NM_001378030.1(CCDC78):c.1005A>G (p.Glu335=)
NM_001378030.1(CCDC78):c.1014C>A (p.Pro338=) rs764805299
NM_001378030.1(CCDC78):c.1044G>A (p.Arg348=) rs1455517817
NM_001378030.1(CCDC78):c.1053+18C>G
NM_001378030.1(CCDC78):c.1053+18C>T
NM_001378030.1(CCDC78):c.1054-15C>T
NM_001378030.1(CCDC78):c.1054-16C>A
NM_001378030.1(CCDC78):c.1054-19C>T
NM_001378030.1(CCDC78):c.1054-20C>G rs906009986
NM_001378030.1(CCDC78):c.1054-7T>A
NM_001378030.1(CCDC78):c.1065T>G (p.Pro355=)
NM_001378030.1(CCDC78):c.1074G>A (p.Leu358=)
NM_001378030.1(CCDC78):c.1110C>T (p.Ser370=)
NM_001378030.1(CCDC78):c.1133+10C>T
NM_001378030.1(CCDC78):c.1133+14T>A
NM_001378030.1(CCDC78):c.1133+14T>C
NM_001378030.1(CCDC78):c.1133+1G>C
NM_001378030.1(CCDC78):c.1134-12C>T
NM_001378030.1(CCDC78):c.1134-14C>T
NM_001378030.1(CCDC78):c.1134-16T>G
NM_001378030.1(CCDC78):c.1134-19C>T rs1320283995
NM_001378030.1(CCDC78):c.1134-20C>T
NM_001378030.1(CCDC78):c.1134-7C>T rs2151539558
NM_001378030.1(CCDC78):c.1182C>T (p.Asp394=)
NM_001378030.1(CCDC78):c.1200+10A>C rs1320389377
NM_001378030.1(CCDC78):c.1200+10_1200+15del rs2040380247
NM_001378030.1(CCDC78):c.1200+12G>C
NM_001378030.1(CCDC78):c.1200+18G>A rs2040379831
NM_001378030.1(CCDC78):c.1200+9C>A rs907003896
NM_001378030.1(CCDC78):c.1201-14C>T
NM_001378030.1(CCDC78):c.1201-15A>T
NM_001378030.1(CCDC78):c.1201-7A>G
NM_001378030.1(CCDC78):c.1207C>T (p.Leu403=) rs941301878
NM_001378030.1(CCDC78):c.1213C>T (p.Arg405Trp) rs563037365
NM_001378030.1(CCDC78):c.1219C>T (p.Arg407Trp) rs773923207
NM_001378030.1(CCDC78):c.1237C>G (p.Arg413Gly) rs780967551
NM_001378030.1(CCDC78):c.1252G>A (p.Glu418Lys) rs2151537413
NM_001378030.1(CCDC78):c.1279T>C (p.Tyr427His) rs558615304
NM_001378030.1(CCDC78):c.1288C>T (p.Gln430Ter)
NM_001378030.1(CCDC78):c.12A>G (p.Ala4=)
NM_001378030.1(CCDC78):c.1301+14G>A
NM_001378030.1(CCDC78):c.1302-11C>T
NM_001378030.1(CCDC78):c.1302-19G>A
NM_001378030.1(CCDC78):c.1302-19G>T rs374237828
NM_001378030.1(CCDC78):c.1306A>G (p.Lys436Glu)
NM_001378030.1(CCDC78):c.1312G>A (p.Glu438Lys)
NM_001378030.1(CCDC78):c.156G>A (p.Ala52=)
NM_001378030.1(CCDC78):c.159C>T (p.Leu53=)
NM_001378030.1(CCDC78):c.180+10G>C
NM_001378030.1(CCDC78):c.180+11_180+12delinsTT rs373524109
NM_001378030.1(CCDC78):c.180+14C>A
NM_001378030.1(CCDC78):c.180+19C>T rs12446058
NM_001378030.1(CCDC78):c.198C>G (p.Val66=)
NM_001378030.1(CCDC78):c.219C>T (p.His73=) rs2151572538
NM_001378030.1(CCDC78):c.231G>A (p.Glu77=)
NM_001378030.1(CCDC78):c.249C>A (p.Ile83=)
NM_001378030.1(CCDC78):c.252C>T (p.Phe84=) rs766553371
NM_001378030.1(CCDC78):c.258G>A (p.Leu86=) rs1190142185
NM_001378030.1(CCDC78):c.261G>A (p.Lys87=)
NM_001378030.1(CCDC78):c.267+20A>C
NM_001378030.1(CCDC78):c.268-19C>T rs1396117099
NM_001378030.1(CCDC78):c.268-7C>T
NM_001378030.1(CCDC78):c.279G>A (p.Leu93=)
NM_001378030.1(CCDC78):c.282G>A (p.Glu94=)
NM_001378030.1(CCDC78):c.288G>A (p.Arg96=)
NM_001378030.1(CCDC78):c.297G>A (p.Glu99=) rs200859995
NM_001378030.1(CCDC78):c.300G>A (p.Leu100=)
NM_001378030.1(CCDC78):c.339C>T (p.Val113=)
NM_001378030.1(CCDC78):c.369G>A (p.Arg123=)
NM_001378030.1(CCDC78):c.384G>A (p.Glu128=)
NM_001378030.1(CCDC78):c.42C>T (p.Pro14=) rs368628654
NM_001378030.1(CCDC78):c.432C>T (p.Phe144=)
NM_001378030.1(CCDC78):c.435+13AT[3] rs2151566358
NM_001378030.1(CCDC78):c.435+17G>A rs752406944
NM_001378030.1(CCDC78):c.435+17G>C
NM_001378030.1(CCDC78):c.435+8T>C
NM_001378030.1(CCDC78):c.436-11C>T
NM_001378030.1(CCDC78):c.436-12C>T
NM_001378030.1(CCDC78):c.436-15C>G
NM_001378030.1(CCDC78):c.436-8C>T
NM_001378030.1(CCDC78):c.438G>A (p.Val146=)
NM_001378030.1(CCDC78):c.441G>A (p.Gln147=)
NM_001378030.1(CCDC78):c.474G>A (p.Gln158=) rs1473631191
NM_001378030.1(CCDC78):c.489C>T (p.Ser163=)
NM_001378030.1(CCDC78):c.492+10C>T rs2151563812
NM_001378030.1(CCDC78):c.492+13C>T
NM_001378030.1(CCDC78):c.492+17C>T
NM_001378030.1(CCDC78):c.492+20G>A
NM_001378030.1(CCDC78):c.493-13G>A
NM_001378030.1(CCDC78):c.495G>A (p.Leu165=) rs2151562636
NM_001378030.1(CCDC78):c.51G>T (p.Arg17=) rs949623191
NM_001378030.1(CCDC78):c.535C>A (p.Arg179=)
NM_001378030.1(CCDC78):c.555G>A (p.Thr185=)
NM_001378030.1(CCDC78):c.558T>C (p.Arg186=)
NM_001378030.1(CCDC78):c.560+17C>T
NM_001378030.1(CCDC78):c.561-10G>A
NM_001378030.1(CCDC78):c.561-15C>T
NM_001378030.1(CCDC78):c.561-19C>G
NM_001378030.1(CCDC78):c.580C>T (p.Leu194=) rs2151560388
NM_001378030.1(CCDC78):c.585G>A (p.Gln195=) rs1192759468
NM_001378030.1(CCDC78):c.592C>G (p.Arg198Gly)
NM_001378030.1(CCDC78):c.60+20C>G
NM_001378030.1(CCDC78):c.61-13G>T
NM_001378030.1(CCDC78):c.615G>A (p.Gly205=)
NM_001378030.1(CCDC78):c.615G>T (p.Gly205=) rs2040704923
NM_001378030.1(CCDC78):c.639+13C>T rs1312612578
NM_001378030.1(CCDC78):c.639+17_639+20del rs746844399
NM_001378030.1(CCDC78):c.640-17G>A rs1020697264
NM_001378030.1(CCDC78):c.640-5C>T rs1814238789
NM_001378030.1(CCDC78):c.645G>A (p.Leu215=)
NM_001378030.1(CCDC78):c.648C>T (p.Cys216=)
NM_001378030.1(CCDC78):c.669T>C (p.Arg223=)
NM_001378030.1(CCDC78):c.692G>A (p.Arg231Gln) rs147504073
NM_001378030.1(CCDC78):c.717G>A (p.Leu239=)
NM_001378030.1(CCDC78):c.726G>A (p.Glu242=) rs1012692311
NM_001378030.1(CCDC78):c.732C>T (p.Val244=)
NM_001378030.1(CCDC78):c.741G>A (p.Leu247=) rs1211222717
NM_001378030.1(CCDC78):c.750C>T (p.Cys250=)
NM_001378030.1(CCDC78):c.754_755inv (p.Trp252Gln)
NM_001378030.1(CCDC78):c.765+10G>A
NM_001378030.1(CCDC78):c.765+11C>G
NM_001378030.1(CCDC78):c.765+13G>A
NM_001378030.1(CCDC78):c.765+17C>T
NM_001378030.1(CCDC78):c.765+7C>T
NM_001378030.1(CCDC78):c.766-19C>A
NM_001378030.1(CCDC78):c.780T>C (p.Gly260=) rs1596618345
NM_001378030.1(CCDC78):c.798C>G (p.Ala266=)
NM_001378030.1(CCDC78):c.801C>T (p.Thr267=) rs1596618143
NM_001378030.1(CCDC78):c.831T>G (p.Thr277=)
NM_001378030.1(CCDC78):c.837G>A (p.Glu279=)
NM_001378030.1(CCDC78):c.846G>C (p.Arg282=) rs2151554557
NM_001378030.1(CCDC78):c.852G>A (p.Ala284=)
NM_001378030.1(CCDC78):c.852G>C (p.Ala284=) rs561702421
NM_001378030.1(CCDC78):c.906G>A (p.Arg302=)
NM_001378030.1(CCDC78):c.924C>A (p.Arg308=) rs2040615574
NM_001378030.1(CCDC78):c.924C>T (p.Arg308=) rs2040615574
NM_001378030.1(CCDC78):c.953+19G>A
NM_001378030.1(CCDC78):c.953+20del
NM_001378030.1(CCDC78):c.954-5G>A
NM_001378030.1(CCDC78):c.969C>A (p.Pro323=) rs2151551775
NM_001378030.1(CCDC78):c.994T>C (p.Leu332=)
NM_001378030.1(CCDC78):c.9C>T (p.His3=) rs1355024482
NM_002469.3(MYF6):c.294C>T (p.Ala98=) rs753157281
NM_002469.3(MYF6):c.478C>T (p.Leu160=) rs368477055
NM_016653.3(MAP3K20):c.1360-14_1360-9del rs150855284
NM_139343.3(BIN1):c.1002+12G>T
NM_139343.3(BIN1):c.1002+14C>T
NM_139343.3(BIN1):c.1020A>G (p.Pro340=)
NM_139343.3(BIN1):c.1041C>T (p.His347=)
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.1131+8G>T
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+10G>A
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.1240-20G>T
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.1296C>T (p.Ser432=)
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.1398T>C (p.Gly466=)
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+11G>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.1675-14G>A
NM_139343.3(BIN1):c.1675-16G>A
NM_139343.3(BIN1):c.1675-20C>G
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+11G>A
NM_139343.3(BIN1):c.220+15_220+21del
NM_139343.3(BIN1):c.220+19G>A rs775915004
NM_139343.3(BIN1):c.221-10T>C
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.411+19G>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.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.516C>G (p.Ala172=)
NM_139343.3(BIN1):c.519+11G>C
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+18C>T
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+10C>T
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+17C>T
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+11G>T
NM_139343.3(BIN1):c.857+12G>A
NM_139343.3(BIN1):c.857+16G>T
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=)

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.