ClinVar Miner

List of variants in gene CCDC78 reported as likely benign for congenital myopathy with internal nuclei and atypical cores

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
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_001378030.1(CCDC78):c.1043G>A (p.Arg348Gln) rs142170929 0.00154
NM_001378030.1(CCDC78):c.755G>A (p.Trp252Ter) rs142133229 0.00125
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_001378030.1(CCDC78):c.23G>A (p.Gly8Asp) rs181469519 0.00068
NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile) rs145112523 0.00066
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_001378030.1(CCDC78):c.492C>T (p.Gly164=) rs144396385 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_001378030.1(CCDC78):c.861C>T (p.Ser287=) rs375625161 0.00026
NM_001378030.1(CCDC78):c.866A>T (p.Glu289Val) rs371760552 0.00022
NM_001378030.1(CCDC78):c.927G>A (p.Arg309=) rs376047604 0.00019
NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=) rs760280521 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_001378030.1(CCDC78):c.668G>A (p.Arg223His) rs373278585 0.00010
NM_001378030.1(CCDC78):c.47G>A (p.Arg16Gln) rs117949611 0.00009
NM_001378030.1(CCDC78):c.642G>A (p.Val214=) rs142353908 0.00008
NM_001378030.1(CCDC78):c.766-8G>A rs371640942 0.00007
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_001378030.1(CCDC78):c.1276G>A (p.Glu426Lys) rs374749282 0.00005
NM_001378030.1(CCDC78):c.612C>T (p.Ala204=) rs765213341 0.00005
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_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_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.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_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.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_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>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.1110C>T (p.Ser370=)
NM_001378030.1(CCDC78):c.1133+10C>T
NM_001378030.1(CCDC78):c.1133+14T>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+18G>A rs2040379831
NM_001378030.1(CCDC78):c.1200+9C>A rs907003896
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.1302-19G>A
NM_001378030.1(CCDC78):c.1302-19G>T rs374237828
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.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.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.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.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>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.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.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.953+19G>A
NM_001378030.1(CCDC78):c.953+20del
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

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