ClinVar Miner

List of variants reported as uncertain significance for Miyoshi myopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.*554C>T rs117180492 0.02476
NM_213599.3(ANO5):c.*279G>A rs72982058 0.02298
NM_213599.3(ANO5):c.*3168C>T rs35892535 0.01843
NM_001130987.2(DYSF):c.*53G>A rs114777968 0.01775
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_213599.3(ANO5):c.*2095G>A rs142192440 0.01610
NM_213599.3(ANO5):c.*3155T>C rs78929863 0.01340
NM_213599.3(ANO5):c.*1328C>T rs78089375 0.01250
NM_213599.3(ANO5):c.-261A>C rs114897158 0.01250
NM_213599.3(ANO5):c.*1661C>T rs12284506 0.01249
NM_213599.3(ANO5):c.*930C>T rs78428314 0.01204
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_213599.3(ANO5):c.*3350T>G rs144806967 0.00723
NM_213599.3(ANO5):c.*2357A>T rs151218419 0.00715
NM_001130987.2(DYSF):c.*267C>G rs181677134 0.00625
NM_213599.3(ANO5):c.*2869A>G rs115249135 0.00608
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_213599.3(ANO5):c.*622G>A rs185108747 0.00343
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_213599.3(ANO5):c.*1712T>C rs530413127 0.00216
NM_213599.3(ANO5):c.-210G>C rs181864243 0.00172
NM_001130987.2(DYSF):c.2409+14G>A rs141170955 0.00148
NM_213599.3(ANO5):c.*1967G>A rs147606218 0.00144
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_213599.3(ANO5):c.*817A>G rs551128567 0.00104
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00098
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682 0.00053
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_213599.3(ANO5):c.*3077G>C rs184295328 0.00049
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_213599.3(ANO5):c.*2947A>T rs764082792 0.00048
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) rs150917600 0.00037
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_213599.3(ANO5):c.*1757A>C rs886048136 0.00033
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_213599.3(ANO5):c.*2207A>T rs143147634 0.00030
NM_001130987.2(DYSF):c.*78C>T rs367543759 0.00028
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001130987.2(DYSF):c.*75C>T rs374833260 0.00026
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_213599.3(ANO5):c.*3373C>A rs868787906 0.00021
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915 0.00020
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486 0.00020
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_213599.3(ANO5):c.*2568T>A rs150297037 0.00019
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.*142G>A rs774156078 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_213599.3(ANO5):c.*2274A>G rs372225865 0.00015
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861 0.00012
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218 0.00011
NM_001130987.2(DYSF):c.*179G>A rs886056284 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054 0.00010
NM_213599.3(ANO5):c.*1119C>T rs886048131 0.00010
NM_213599.3(ANO5):c.2235+4A>C rs372056234 0.00010
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930 0.00009
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095 0.00009
NM_213599.3(ANO5):c.369G>A (p.Ser123=) rs199888040 0.00009
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) rs143632564 0.00008
NM_001130987.2(DYSF):c.4464+7T>C rs369949055 0.00008
NM_213599.3(ANO5):c.*1941C>T rs183334403 0.00008
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala) rs753176482 0.00007
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926 0.00006
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801 0.00006
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439 0.00006
NM_213599.3(ANO5):c.*305A>T rs867650799 0.00006
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys) rs539727858 0.00005
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314 0.00005
NM_213599.3(ANO5):c.*2293G>C rs886048138 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776 0.00004
NM_001130987.2(DYSF):c.1807-10C>T rs749361351 0.00004
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494 0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp) rs762486621 0.00004
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) rs370286628 0.00004
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394 0.00004
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln) rs143078257 0.00004
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=) rs886056280 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln) rs370745710 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp) rs369627849 0.00003
NM_001130987.2(DYSF):c.558A>G (p.Thr186=) rs781732915 0.00003
NM_001130987.2(DYSF):c.5643-12A>G rs375507062 0.00003
NM_213599.3(ANO5):c.*2752G>A rs752574891 0.00003
NM_213599.3(ANO5):c.*3196A>G rs886048142 0.00003
NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser) rs139344099 0.00003
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 0.00002
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His) rs754763074 0.00002
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273 0.00002
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val) rs571364996 0.00002
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812 0.00002
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln) rs748528655 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.759+10G>A rs200198865 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys) rs777607869 0.00002
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) rs375071568 0.00001
NM_001130987.2(DYSF):c.1276+13C>T rs373530549 0.00001
NM_001130987.2(DYSF):c.1493+13T>C rs886056279 0.00001
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser) rs748826870 0.00001
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929 0.00001
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser) rs559177313 0.00001
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala) rs886042550 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682 0.00001
NM_001130987.2(DYSF):c.3898-4C>G rs555206040 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) rs199827126 0.00001
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) rs886056283 0.00001
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe) rs1486691301 0.00001
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_213599.3(ANO5):c.*1248A>G rs886048132 0.00001
NM_213599.3(ANO5):c.*1647T>C rs886048133 0.00001
NM_213599.3(ANO5):c.*185A>G rs774589940 0.00001
NM_213599.3(ANO5):c.*3206A>G rs886048143 0.00001
NM_213599.3(ANO5):c.-162A>G rs61879341 0.00001
NM_213599.3(ANO5):c.-65G>C rs886048116 0.00001
NM_213599.3(ANO5):c.1548C>T (p.Leu516=) rs886042624 0.00001
NM_213599.3(ANO5):c.1801-9T>C rs202034123 0.00001
NM_213599.3(ANO5):c.2139C>T (p.Thr713=) rs767479331 0.00001
NM_213599.3(ANO5):c.2236-5T>G rs886048122 0.00001
NM_213599.3(ANO5):c.2317A>G (p.Met773Val) rs751028884 0.00001
NM_213599.3(ANO5):c.2478G>T (p.Trp826Cys) rs886048124 0.00001
NM_213599.3(ANO5):c.424A>T (p.Thr142Ser) rs757367942 0.00001
NM_213599.3(ANO5):c.567A>G (p.Ala189=) rs546565538 0.00001
NM_001130987.2(DYSF):c.*245T>C rs886056285
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys) rs398123766
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1919A>C (p.Asn640Thr) rs886043196
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg) rs886056281
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn) rs2152814096
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) rs2152815107
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala) rs886056278
NM_001130987.2(DYSF):c.3927+10G>A rs886056282
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu) rs139654844
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln) rs768704227
NM_001130987.2(DYSF):c.55C>T (p.Arg19Trp) rs931174858
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) rs749619435
NM_001130987.2(DYSF):c.952-3C>G
NM_213599.3(ANO5):c.*106T>C rs886048126
NM_213599.3(ANO5):c.*1095G>A rs886048130
NM_213599.3(ANO5):c.*112_*113del rs5790246
NM_213599.3(ANO5):c.*114C>T rs12575889
NM_213599.3(ANO5):c.*114_*115del rs886048127
NM_213599.3(ANO5):c.*1666_*1669dup rs886048134
NM_213599.3(ANO5):c.*1674T>A rs886048135
NM_213599.3(ANO5):c.*220G>A rs886048128
NM_213599.3(ANO5):c.*2252T>C rs886048137
NM_213599.3(ANO5):c.*2296T>C rs762485787
NM_213599.3(ANO5):c.*2704A>C rs886048139
NM_213599.3(ANO5):c.*2784G>A rs886048140
NM_213599.3(ANO5):c.*2980T>C rs886048141
NM_213599.3(ANO5):c.*3251_*3253del rs548308698
NM_213599.3(ANO5):c.*3273G>C rs886048145
NM_213599.3(ANO5):c.*3473T>G rs886048147
NM_213599.3(ANO5):c.*811A>G rs886048129
NM_213599.3(ANO5):c.*99del rs376217145
NM_213599.3(ANO5):c.-194G>T rs573002846
NM_213599.3(ANO5):c.1277T>C (p.Leu426Pro) rs886048119
NM_213599.3(ANO5):c.138+10G>A rs78987921
NM_213599.3(ANO5):c.138+7A>G rs886048118
NM_213599.3(ANO5):c.1641A>C (p.Arg547=) rs886048120
NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs) rs1554931773
NM_213599.3(ANO5):c.2236-10_2236-7del rs886048121
NM_213599.3(ANO5):c.2249C>T (p.Ala750Val) rs886048123
NM_213599.3(ANO5):c.2580T>C (p.Asp860=) rs886048125
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.79A>C (p.Met27Leu) rs886048117
NM_213599.3(ANO5):c.88-14C>T rs770721931

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