ClinVar Miner

List of variants reported as uncertain significance for Megaconial type congenital muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_005198.5(CHKB):c.*208T>G rs41281533 0.00470
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00334
NM_005198.5(CHKB):c.457T>C (p.Leu153=) rs146693439 0.00141
NM_005198.5(CHKB):c.670A>C (p.Asn224His) rs149858290 0.00088
NM_005198.5(CHKB):c.275C>T (p.Pro92Leu) rs140867913 0.00027
NM_005198.5(CHKB):c.902C>T (p.Thr301Ile) rs147485527 0.00024
NM_005198.5(CHKB):c.501T>G (p.Ile167Met) rs199704510 0.00015
NM_005198.5(CHKB):c.34G>A (p.Gly12Arg) rs533374333 0.00014
NM_005198.5(CHKB):c.1006G>A (p.Glu336Lys) rs374337406 0.00011
NM_005198.5(CHKB):c.944A>G (p.His315Arg) rs199641367 0.00011
NM_005198.5(CHKB):c.970G>C (p.Glu324Gln) rs771047317 0.00009
NM_005198.5(CHKB):c.581G>A (p.Arg194Gln) rs139818555 0.00008
NM_005198.5(CHKB):c.709G>A (p.Val237Ile) rs184254424 0.00008
NM_005198.5(CHKB):c.219C>T (p.Pro73=) rs751273046 0.00007
NM_005198.5(CHKB):c.668G>A (p.Gly223Asp) rs369606974 0.00007
NM_005198.5(CHKB):c.708C>T (p.Val236=) rs141934594 0.00007
NM_005198.5(CHKB):c.871G>A (p.Glu291Lys) rs374544105 0.00007
NM_005198.5(CHKB):c.140G>A (p.Arg47His) rs893001695 0.00006
NM_005198.5(CHKB):c.476G>A (p.Arg159Gln) rs760539135 0.00006
NM_005198.4(CHKB):c.-94G>A rs886057639 0.00005
NM_005198.5(CHKB):c.1037C>T (p.Ala346Val) rs772616505 0.00005
NM_005198.5(CHKB):c.1114-6C>T rs151123092 0.00005
NM_005198.5(CHKB):c.980C>T (p.Ser327Phe) rs371355721 0.00005
NM_005198.5(CHKB):c.1018G>C (p.Val340Leu) rs756893592 0.00004
NM_005198.5(CHKB):c.184C>T (p.Arg62Cys) rs147043849 0.00004
NM_005198.5(CHKB):c.293C>T (p.Pro98Leu) rs750678988 0.00004
NM_005198.5(CHKB):c.466C>G (p.Gln156Glu) rs764016359 0.00004
NM_005198.5(CHKB):c.692C>G (p.Ser231Cys) rs199783402 0.00004
NM_005198.5(CHKB):c.908A>G (p.Tyr303Cys) rs143061031 0.00004
NM_005198.5(CHKB):c.1008A>T (p.Glu336Asp) rs559736493 0.00003
NM_005198.5(CHKB):c.1030C>T (p.Arg344Trp) rs138074497 0.00003
NM_005198.5(CHKB):c.1111T>A (p.Leu371Met) rs372078948 0.00003
NM_005198.5(CHKB):c.1113+4A>T rs760858639 0.00003
NM_005198.5(CHKB):c.1157G>A (p.Gly386Glu) rs140289037 0.00003
NM_005198.5(CHKB):c.214T>C (p.Tyr72His) rs747691808 0.00003
NM_005198.5(CHKB):c.262C>G (p.Pro88Ala) rs547428711 0.00003
NM_005198.5(CHKB):c.35G>A (p.Gly12Glu) rs746317833 0.00003
NM_005198.5(CHKB):c.*126C>T rs112742765 0.00002
NM_005198.5(CHKB):c.1082C>T (p.Ala361Val) rs755801840 0.00002
NM_005198.5(CHKB):c.217C>T (p.Pro73Ser) rs864309593 0.00002
NM_005198.5(CHKB):c.224+5G>C rs765251030 0.00002
NM_005198.5(CHKB):c.291G>T (p.Glu97Asp) rs757428570 0.00002
NM_005198.5(CHKB):c.365T>C (p.Met122Thr) rs754126452 0.00002
NM_005198.5(CHKB):c.385C>T (p.Arg129Trp) rs767938046 0.00002
NM_005198.5(CHKB):c.452G>A (p.Arg151Gln) rs184839240 0.00002
NM_005198.5(CHKB):c.537G>A (p.Met179Ile) rs1354225212 0.00002
NM_005198.5(CHKB):c.745T>C (p.Leu249=) rs760310819 0.00002
NM_005198.5(CHKB):c.905A>T (p.Asp302Val) rs775547378 0.00002
NM_005198.5(CHKB):c.-13T>C rs2070729352 0.00001
NM_005198.5(CHKB):c.1031+12G>A rs777277938 0.00001
NM_005198.5(CHKB):c.1031+3G>C rs751176079 0.00001
NM_005198.5(CHKB):c.1114G>C (p.Asp372His) rs1415692835 0.00001
NM_005198.5(CHKB):c.1169G>A (p.Ser390Asn) rs1225733348 0.00001
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp) rs752292240 0.00001
NM_005198.5(CHKB):c.161G>A (p.Arg54Gln) rs1347473103 0.00001
NM_005198.5(CHKB):c.170T>G (p.Leu57Trp) rs1460255059 0.00001
NM_005198.5(CHKB):c.17C>T (p.Thr6Ile) rs1555894924 0.00001
NM_005198.5(CHKB):c.234C>G (p.Leu78=) rs929019284 0.00001
NM_005198.5(CHKB):c.260T>C (p.Leu87Pro) rs1177999891 0.00001
NM_005198.5(CHKB):c.323C>T (p.Ala108Val) rs967408054 0.00001
NM_005198.5(CHKB):c.423G>T (p.Glu141Asp) rs766046984 0.00001
NM_005198.5(CHKB):c.428G>C (p.Arg143Pro) rs201257544 0.00001
NM_005198.5(CHKB):c.437A>G (p.Gln146Arg) rs1239232044 0.00001
NM_005198.5(CHKB):c.451C>T (p.Arg151Trp) rs148857303 0.00001
NM_005198.5(CHKB):c.515C>T (p.Ala172Val) rs748462496 0.00001
NM_005198.5(CHKB):c.528C>T (p.Gly176=) rs2070689562 0.00001
NM_005198.5(CHKB):c.580C>T (p.Arg194Trp) rs763737224 0.00001
NM_005198.5(CHKB):c.613A>G (p.Thr205Ala) rs888546734 0.00001
NM_005198.5(CHKB):c.641A>G (p.Glu214Gly) rs997259215 0.00001
NM_005198.5(CHKB):c.642G>T (p.Glu214Asp) rs761029141 0.00001
NM_005198.5(CHKB):c.649A>G (p.Ser217Gly) rs565326245 0.00001
NM_005198.5(CHKB):c.678-12A>G rs749813559 0.00001
NM_005198.5(CHKB):c.697C>T (p.Pro233Ser) rs1373704548 0.00001
NM_005198.5(CHKB):c.6G>A (p.Ala2=) rs927716556 0.00001
NM_005198.5(CHKB):c.815A>G (p.Tyr272Cys) rs1028826818 0.00001
NM_005198.5(CHKB):c.86C>T (p.Pro29Leu) rs768840882 0.00001
NM_005198.5(CHKB):c.873G>T (p.Glu291Asp) rs766225706 0.00001
NM_005198.5(CHKB):c.893C>T (p.Ala298Val) rs370202172 0.00001
NM_005198.5(CHKB):c.925C>G (p.Gln309Glu) rs139059552 0.00001
NM_005198.5(CHKB):c.927+10C>G rs549171476 0.00001
NM_005198.5(CHKB):c.937A>G (p.Ile313Val) rs757983603 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_005198.5(CHKB):c.941G>A (p.Arg314His) rs577953900 0.00001
NM_005198.5(CHKB):c.950T>A (p.Leu317Gln) rs763993653 0.00001
NM_005198.5(CHKB):c.961A>G (p.Lys321Glu) rs143218928 0.00001
NM_005198.5(CHKB):c.991C>G (p.Gln331Glu) rs747586997 0.00001
NC_000022.10:g.(?_51017600)_(51021220_?)dup
NC_000022.11:g.(?_50579171)_(50580670_?)dup
NC_000022.11:g.50581441_50581449del rs1603443745
NM_005198.5(CHKB):c.1001T>C (p.Leu334Pro) rs780983852
NM_005198.5(CHKB):c.1005AGA[1] (p.Glu336del) rs778645316
NM_005198.5(CHKB):c.1012T>G (p.Leu338Val) rs2522773087
NM_005198.5(CHKB):c.1028G>A (p.Ser343Asn) rs1312338081
NM_005198.5(CHKB):c.1032-2A>T rs1555894289
NM_005198.5(CHKB):c.104G>C (p.Arg35Pro) rs889845523
NM_005198.5(CHKB):c.1052T>C (p.Phe351Ser) rs2070626951
NM_005198.5(CHKB):c.1056_1058del (p.Phe352_Trp353delinsLeu) rs2070626704
NM_005198.5(CHKB):c.1064T>C (p.Leu355Pro) rs2070626510
NM_005198.5(CHKB):c.106C>T (p.Arg36Trp) rs2070724928
NM_005198.5(CHKB):c.1085C>T (p.Ser362Phe) rs766753256
NM_005198.5(CHKB):c.1088T>C (p.Met363Thr) rs2522770718
NM_005198.5(CHKB):c.1114-14G>A rs756289571
NM_005198.5(CHKB):c.1114-3T>G rs886057638
NM_005198.5(CHKB):c.1121C>T (p.Ala374Val) rs751958642
NM_005198.5(CHKB):c.1129C>G (p.Arg377Gly) rs766848672
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp) rs766848672
NM_005198.5(CHKB):c.1160A>C (p.Gln387Pro) rs1389494045
NM_005198.5(CHKB):c.119C>G (p.Ser40Trp) rs1011397890
NM_005198.5(CHKB):c.119C>T (p.Ser40Leu) rs1011397890
NM_005198.5(CHKB):c.134C>T (p.Ala45Val) rs755650815
NM_005198.5(CHKB):c.146C>T (p.Ala49Val) rs2522792904
NM_005198.5(CHKB):c.155G>T (p.Trp52Leu) rs1207178552
NM_005198.5(CHKB):c.176G>C (p.Gly59Ala) rs775814577
NM_005198.5(CHKB):c.183G>T (p.Trp61Cys) rs1603443790
NM_005198.5(CHKB):c.196C>A (p.Pro66Thr) rs141533752
NM_005198.5(CHKB):c.1A>T (p.Met1Leu) rs1452864281
NM_005198.5(CHKB):c.212T>C (p.Val71Ala) rs1399285509
NM_005198.5(CHKB):c.212T>G (p.Val71Gly) rs1399285509
NM_005198.5(CHKB):c.220G>A (p.Val74Met) rs758217425
NM_005198.5(CHKB):c.220G>C (p.Val74Leu) rs758217425
NM_005198.5(CHKB):c.227G>A (p.Gly76Glu) rs2522789848
NM_005198.5(CHKB):c.244C>G (p.Leu82Val) rs1329658058
NM_005198.5(CHKB):c.292C>T (p.Pro98Ser) rs1307581608
NM_005198.5(CHKB):c.296_313del (p.Arg99_Arg104del) rs1177835390
NM_005198.5(CHKB):c.302T>C (p.Val101Ala) rs1358664458
NM_005198.5(CHKB):c.305T>C (p.Leu102Pro) rs2070709347
NM_005198.5(CHKB):c.359G>A (p.Ser120Asn) rs2146656856
NM_005198.5(CHKB):c.373A>G (p.Ile125Val) rs756445442
NM_005198.5(CHKB):c.376C>T (p.Leu126Phe) rs2070697319
NM_005198.5(CHKB):c.392T>C (p.Leu131Pro) rs2522786029
NM_005198.5(CHKB):c.417C>G (p.Phe139Leu) rs1478739647
NM_005198.5(CHKB):c.439T>G (p.Tyr147Asp) rs1603443753
NM_005198.5(CHKB):c.442A>G (p.Ile148Val) rs2146656696
NM_005198.5(CHKB):c.447+12G>A rs749454476
NM_005198.5(CHKB):c.447+5G>C rs371067691
NM_005198.5(CHKB):c.450T>G (p.Ser150Arg) rs1284516800
NM_005198.5(CHKB):c.452G>C (p.Arg151Pro) rs184839240
NM_005198.5(CHKB):c.464C>T (p.Thr155Ile) rs950085207
NM_005198.5(CHKB):c.468A>G (p.Gln156=) rs2070691030
NM_005198.5(CHKB):c.485T>C (p.Val162Ala) rs1255195125
NM_005198.5(CHKB):c.493G>C (p.Ala165Pro) rs2522784327
NM_005198.5(CHKB):c.499A>G (p.Ile167Val) rs2146656161
NM_005198.5(CHKB):c.512T>C (p.Met171Thr) rs774685301
NM_005198.5(CHKB):c.539C>G (p.Pro180Arg) rs757942378
NM_005198.5(CHKB):c.55G>C (p.Ala19Pro) rs1317692402
NM_005198.5(CHKB):c.569G>A (p.Gly190Glu) rs2070688663
NM_005198.5(CHKB):c.577G>A (p.Glu193Lys) rs1555894697
NM_005198.5(CHKB):c.58A>C (p.Lys20Gln) rs2146659155
NM_005198.5(CHKB):c.619C>T (p.Leu207Phe) rs552898356
NM_005198.5(CHKB):c.61G>A (p.Asp21Asn) rs2070726433
NM_005198.5(CHKB):c.677+3G>A rs2146654459
NM_005198.5(CHKB):c.704C>G (p.Pro235Arg) rs199847760
NM_005198.5(CHKB):c.704C>T (p.Pro235Leu) rs199847760
NM_005198.5(CHKB):c.714C>G (p.Phe238Leu) rs2070662071
NM_005198.5(CHKB):c.727A>G (p.Ile243Val)
NM_005198.5(CHKB):c.736+5_736+7del rs2522777859
NM_005198.5(CHKB):c.785T>G (p.Leu262Arg) rs2146653235
NM_005198.5(CHKB):c.80A>G (p.Lys27Arg) rs149592688
NM_005198.5(CHKB):c.818+11A>T rs2522776447
NM_005198.5(CHKB):c.819-15A>T rs1272038088
NM_005198.5(CHKB):c.819-16_819-7del rs2146652864
NM_005198.5(CHKB):c.856T>C (p.Tyr286His) rs764474062
NM_005198.5(CHKB):c.860A>C (p.Asp287Ala) rs1569052732
NM_005198.5(CHKB):c.870C>A (p.His290Gln) rs140020889
NM_005198.5(CHKB):c.880C>G (p.Pro294Ala)
NM_005198.5(CHKB):c.910C>A (p.Pro304Thr) rs1410044885
NM_005198.5(CHKB):c.946T>C (p.Tyr316His) rs2070641095

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