ClinVar Miner

List of variants reported as uncertain significance for Myofibrillar myopathy 3

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ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_006790.3(MYOT):c.*311A>T rs966703412 0.00044
NM_006790.3(MYOT):c.*372G>A rs1029781405 0.00036
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) rs146426896 0.00015
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala) rs766650528 0.00009
NM_006790.3(MYOT):c.-165C>T rs866748883 0.00006
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00006
NM_006790.3(MYOT):c.1458G>A (p.Leu486=) rs202139846 0.00005
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys) rs957169726 0.00005
NM_006790.3(MYOT):c.*418T>C rs778508971 0.00004
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) rs373489115 0.00004
NM_006790.3(MYOT):c.593T>C (p.Val198Ala) rs776439973 0.00004
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) rs756669574 0.00004
NM_006790.3(MYOT):c.656G>A (p.Arg219Gln) rs745792335 0.00004
NM_006790.3(MYOT):c.-286C>G rs1281967239 0.00003
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) rs1489391510 0.00003
NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr) rs372167756 0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_006790.3(MYOT):c.182A>C (p.His61Pro) rs372276337 0.00003
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr) rs1163332539 0.00003
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr) rs201113539 0.00003
NM_006790.3(MYOT):c.817-11T>C rs377759571 0.00003
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser) rs372307298 0.00002
NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala) rs781052225 0.00002
NM_006790.3(MYOT):c.1497A>T (p.Ter499Tyr) rs779978043 0.00002
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) rs752723849 0.00002
NM_006790.3(MYOT):c.385A>G (p.Ile129Val) rs1191595067 0.00002
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) rs140135928 0.00002
NM_006790.3(MYOT):c.762A>C (p.Gln254His) rs983379755 0.00002
NM_006790.3(MYOT):c.782T>C (p.Ile261Thr) rs764439615 0.00002
NM_006790.3(MYOT):c.*167A>G rs886059969 0.00001
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn) rs201903235 0.00001
NM_006790.3(MYOT):c.1025-3T>C rs1410370327 0.00001
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser) rs777061001 0.00001
NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro) rs902179316 0.00001
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln) rs761659382 0.00001
NM_006790.3(MYOT):c.1191C>T (p.Ser397=) rs1430285102 0.00001
NM_006790.3(MYOT):c.1195T>C (p.Tyr399His) rs147239483 0.00001
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) rs886059968 0.00001
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr) rs587780396 0.00001
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg) rs769872126 0.00001
NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys) rs192257955 0.00001
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln) rs755203621 0.00001
NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser) rs777693396 0.00001
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) rs727504026 0.00001
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) rs770515990 0.00001
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu) rs766736443 0.00001
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg) rs375274205 0.00001
NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys) rs757233743 0.00001
NM_006790.3(MYOT):c.191T>A (p.Met64Lys) rs763147610 0.00001
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) rs1755029530 0.00001
NM_006790.3(MYOT):c.372del (p.Ala125fs) rs781353247 0.00001
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu) rs982468554 0.00001
NM_006790.3(MYOT):c.398C>T (p.Pro133Leu) rs779568205 0.00001
NM_006790.3(MYOT):c.424A>G (p.Ile142Val) rs771238896 0.00001
NM_006790.3(MYOT):c.464A>C (p.Glu155Ala) rs148166751 0.00001
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe) rs997275341 0.00001
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu) rs1304612966 0.00001
NM_006790.3(MYOT):c.560G>A (p.Arg187His) rs200273223 0.00001
NM_006790.3(MYOT):c.650A>G (p.His217Arg) rs758565747 0.00001
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter) rs781249546 0.00001
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) rs193920888 0.00001
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys) rs760118881 0.00001
NM_006790.3(MYOT):c.752G>A (p.Arg251His) rs1477747475 0.00001
NM_006790.3(MYOT):c.816+5G>T rs750433300 0.00001
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) rs374221793 0.00001
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) rs758194318 0.00001
NC_000005.10:g.137881974_137881979del
NC_000005.9:g.(?_137216485)_(137221922_?)del
NM_006790.3(MYOT):c.*188A>C rs1561666869
NM_006790.3(MYOT):c.*50T>G rs1755640829
NM_006790.3(MYOT):c.-89del rs886059966
NM_006790.3(MYOT):c.1006G>C (p.Val336Leu)
NM_006790.3(MYOT):c.1024+5G>A
NM_006790.3(MYOT):c.107_110del (p.Lys36fs) rs398124238
NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln) rs755615381
NM_006790.3(MYOT):c.1086G>C (p.Glu362Asp)
NM_006790.3(MYOT):c.1113G>C (p.Gln371His)
NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)
NM_006790.3(MYOT):c.1126C>A (p.Pro376Thr)
NM_006790.3(MYOT):c.1126C>G (p.Pro376Ala)
NM_006790.3(MYOT):c.1129C>A (p.Pro377Thr)
NM_006790.3(MYOT):c.1142T>C (p.Phe381Ser)
NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter)
NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser)
NM_006790.3(MYOT):c.118A>G (p.Ile40Val)
NM_006790.3(MYOT):c.1202A>G (p.Asp401Gly)
NM_006790.3(MYOT):c.1208C>T (p.Thr403Ile)
NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln)
NM_006790.3(MYOT):c.1234G>C (p.Asp412His)
NM_006790.3(MYOT):c.1253C>T (p.Ala418Val) rs2149990334
NM_006790.3(MYOT):c.1291G>A (p.Val431Met) rs756306645
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys)
NM_006790.3(MYOT):c.1318G>A (p.Val440Ile)
NM_006790.3(MYOT):c.1322C>T (p.Thr441Met)
NM_006790.3(MYOT):c.1323G>A (p.Thr441=)
NM_006790.3(MYOT):c.1325-1G>A
NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly)
NM_006790.3(MYOT):c.1328G>A (p.Arg443His)
NM_006790.3(MYOT):c.134G>A (p.Arg45His)
NM_006790.3(MYOT):c.134G>T (p.Arg45Leu) rs1358850010
NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)
NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro) rs141801816
NM_006790.3(MYOT):c.1366G>A (p.Val456Ile)
NM_006790.3(MYOT):c.1369C>A (p.Arg457=)
NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu)
NM_006790.3(MYOT):c.137A>G (p.Gln46Arg)
NM_006790.3(MYOT):c.137A>T (p.Gln46Leu) rs2149978825
NM_006790.3(MYOT):c.1391_1398del (p.Tyr463_Leu464insTer)
NM_006790.3(MYOT):c.1392A>T (p.Leu464Phe)
NM_006790.3(MYOT):c.1396C>T (p.Leu466Phe)
NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg) rs1295267806
NM_006790.3(MYOT):c.13G>A (p.Glu5Lys)
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala) rs149213350
NM_006790.3(MYOT):c.1417dup (p.Val473fs)
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) rs748921791
NM_006790.3(MYOT):c.1424A>C (p.Gln475Pro)
NM_006790.3(MYOT):c.1439_1441del (p.Glu480del)
NM_006790.3(MYOT):c.143C>G (p.Thr48Arg)
NM_006790.3(MYOT):c.1454G>A (p.Arg485His)
NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu)
NM_006790.3(MYOT):c.145G>C (p.Glu49Gln) rs199760778
NM_006790.3(MYOT):c.147G>C (p.Glu49Asp) rs1309789504
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly) rs2149978850
NM_006790.3(MYOT):c.167C>T (p.Ser56Leu)
NM_006790.3(MYOT):c.16C>G (p.Arg6Gly)
NM_006790.3(MYOT):c.16C>T (p.Arg6Cys)
NM_006790.3(MYOT):c.170del (p.Thr57fs)
NM_006790.3(MYOT):c.176G>A (p.Ser59Asn)
NM_006790.3(MYOT):c.188C>T (p.Thr63Ile)
NM_006790.3(MYOT):c.1A>T (p.Met1Leu) rs1561657261
NM_006790.3(MYOT):c.225G>C (p.Gln75His)
NM_006790.3(MYOT):c.239A>G (p.Asn80Ser)
NM_006790.3(MYOT):c.252G>C (p.Arg84Ser) rs886044687
NM_006790.3(MYOT):c.257C>A (p.Thr86Lys) rs1205992276
NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)
NM_006790.3(MYOT):c.298A>G (p.Ile100Val) rs1423966332
NM_006790.3(MYOT):c.318T>A (p.Asp106Glu)
NM_006790.3(MYOT):c.32T>C (p.Ile11Thr)
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.3(MYOT):c.348G>A (p.Met116Ile) rs1295803826
NM_006790.3(MYOT):c.356+13T>G rs1461754985
NM_006790.3(MYOT):c.364C>T (p.Gln122Ter)
NM_006790.3(MYOT):c.387A>G (p.Ile129Met) rs1554102960
NM_006790.3(MYOT):c.391G>T (p.Ala131Ser) rs1554102961
NM_006790.3(MYOT):c.392C>T (p.Ala131Val)
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
NM_006790.3(MYOT):c.427C>T (p.Pro143Ser)
NM_006790.3(MYOT):c.436C>T (p.Pro146Ser) rs1755197357
NM_006790.3(MYOT):c.473T>C (p.Ile158Thr)
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln) rs1214787397
NM_006790.3(MYOT):c.49T>A (p.Cys17Ser)
NM_006790.3(MYOT):c.500G>A (p.Cys167Tyr)
NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)
NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) rs2149978722
NM_006790.3(MYOT):c.524G>T (p.Gly175Val)
NM_006790.3(MYOT):c.532C>T (p.Arg178Cys)
NM_006790.3(MYOT):c.533G>T (p.Arg178Leu)
NM_006790.3(MYOT):c.53G>T (p.Gly18Val)
NM_006790.3(MYOT):c.552G>C (p.Lys184Asn) rs2149983161
NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)
NM_006790.3(MYOT):c.562del (p.Arg188fs)
NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile) rs370165036
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu) rs1561660796
NM_006790.3(MYOT):c.614G>C (p.Ser205Thr)
NM_006790.3(MYOT):c.61T>A (p.Leu21Met)
NM_006790.3(MYOT):c.653C>A (p.Ala218Glu) rs533510304
NM_006790.3(MYOT):c.653C>T (p.Ala218Val)
NM_006790.3(MYOT):c.667C>T (p.Pro223Ser)
NM_006790.3(MYOT):c.677A>T (p.Gln226Leu)
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr) rs751876756
NM_006790.3(MYOT):c.67C>T (p.Pro23Ser) rs751876756
NM_006790.3(MYOT):c.680_683del (p.Val227fs) rs775014749
NM_006790.3(MYOT):c.683+1G>C rs2149985981
NM_006790.3(MYOT):c.684-3T>C
NM_006790.3(MYOT):c.685A>G (p.Ser229Gly)
NM_006790.3(MYOT):c.691T>C (p.Ser231Pro)
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys) rs1755447825
NM_006790.3(MYOT):c.709G>A (p.Val237Met)
NM_006790.3(MYOT):c.725C>T (p.Ala242Val)
NM_006790.3(MYOT):c.740T>G (p.Phe247Cys)
NM_006790.3(MYOT):c.775A>G (p.Met259Val)
NM_006790.3(MYOT):c.776T>G (p.Met259Arg)
NM_006790.3(MYOT):c.784G>C (p.Asp262His) rs1271782226
NM_006790.3(MYOT):c.808G>C (p.Asp270His) rs1561663452
NM_006790.3(MYOT):c.815A>C (p.Lys272Thr)
NM_006790.3(MYOT):c.83C>T (p.Thr28Ile) rs767662244
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
NM_006790.3(MYOT):c.86C>T (p.Ser29Phe) rs1580847200
NM_006790.3(MYOT):c.884T>G (p.Leu295Trp)
NM_006790.3(MYOT):c.935T>C (p.Val312Ala)
NM_006790.3(MYOT):c.937G>A (p.Val313Ile) rs760955035
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu) rs753927065
NM_006790.3(MYOT):c.956G>C (p.Gly319Ala) rs1330407694
NM_006790.3(MYOT):c.959C>T (p.Ala320Val) rs2149988068
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) rs2149988081
NM_006790.3(MYOT):c.983G>A (p.Arg328Lys)
NM_006790.3(MYOT):c.98G>T (p.Ser33Ile) rs1554102559

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