ClinVar Miner

List of variants in gene MYL3 reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1440):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00133
NM_000258.3(MYL3):c.*112C>A rs546968708 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) rs148310342 0.00012
NM_000258.3(MYL3):c.*140C>T rs764865767 0.00004
NM_000258.3(MYL3):c.*5C>T rs727505197 0.00004
NM_000258.3(MYL3):c.367A>G (p.Lys123Glu) rs536445081 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000258.3(MYL3):c.476C>T (p.Thr159Met) rs748832105 0.00004
NM_000258.3(MYL3):c.481+5G>A rs1005891266 0.00004
NM_000258.3(MYL3):c.245C>T (p.Ala82Val) rs752549068 0.00003
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys) rs377026344 0.00003
NM_000258.3(MYL3):c.*6G>A rs754568155 0.00002
NM_000258.3(MYL3):c.136T>C (p.Phe46Leu) rs730880953 0.00002
NM_000258.3(MYL3):c.140C>T (p.Thr47Ile) rs778515428 0.00002
NM_000258.3(MYL3):c.152T>C (p.Ile51Thr) rs749017586 0.00002
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) rs565312070 0.00002
NM_000258.3(MYL3):c.219C>T (p.Tyr73=) rs780500137 0.00002
NM_000258.3(MYL3):c.280C>T (p.Arg94Cys) rs730880961 0.00002
NM_000258.3(MYL3):c.294G>T (p.Lys98Asn) rs769503169 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000258.3(MYL3):c.61C>T (p.Pro21Ser) rs779557153 0.00002
NM_000258.3(MYL3):c.106G>A (p.Glu36Lys) rs749941468 0.00001
NM_000258.3(MYL3):c.147G>T (p.Glu49Asp) rs1004231349 0.00001
NM_000258.3(MYL3):c.178C>G (p.Leu60Val) rs1367233580 0.00001
NM_000258.3(MYL3):c.188G>A (p.Arg63His) rs139354105 0.00001
NM_000258.3(MYL3):c.193C>T (p.Pro65Ser) rs730880960 0.00001
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg) rs730880956 0.00001
NM_000258.3(MYL3):c.235G>A (p.Val79Ile) rs150634297 0.00001
NM_000258.3(MYL3):c.241C>T (p.Arg81Trp) rs761891361 0.00001
NM_000258.3(MYL3):c.256A>T (p.Asn86Tyr) rs1257328187 0.00001
NM_000258.3(MYL3):c.26A>G (p.Lys9Arg) rs1025864971 0.00001
NM_000258.3(MYL3):c.301C>G (p.Gln101Glu) rs747691982 0.00001
NM_000258.3(MYL3):c.307G>A (p.Glu103Lys) rs1479071663 0.00001
NM_000258.3(MYL3):c.32A>T (p.Asp11Val) rs1227232995 0.00001
NM_000258.3(MYL3):c.347C>T (p.Pro116Leu) rs777888933 0.00001
NM_000258.3(MYL3):c.350T>C (p.Met117Thr) rs1353091311 0.00001
NM_000258.3(MYL3):c.392A>G (p.Glu131Gly) rs1372665221 0.00001
NM_000258.3(MYL3):c.410dup (p.Arg138fs) rs745346844 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000258.3(MYL3):c.433A>G (p.Asn145Asp) rs1204710752 0.00001
NM_000258.3(MYL3):c.47C>T (p.Ala16Val) rs754871327 0.00001
NM_000258.3(MYL3):c.502G>A (p.Glu168Lys) rs1376871183 0.00001
NM_000258.3(MYL3):c.517A>G (p.Met173Val) rs199474708 0.00001
NM_000258.3(MYL3):c.521C>T (p.Ala174Val) rs763216044 0.00001
NM_000258.3(MYL3):c.557A>C (p.Glu186Ala) rs374329098 0.00001
NM_000258.3(MYL3):c.560-15T>G rs1041055773 0.00001
NM_000258.3(MYL3):c.575dup (p.Met193fs) rs757730888 0.00001
NM_000258.3(MYL3):c.70G>A (p.Ala24Thr) rs758048820 0.00001
NM_000258.3(MYL3):c.71C>T (p.Ala24Val) rs373278317 0.00001
NM_000258.3(MYL3):c.73C>T (p.Pro25Ser) rs369256548 0.00001
NM_000258.3(MYL3):c.79C>T (p.Pro27Ser) rs1248338056 0.00001
NM_000258.3(MYL3):c.82G>A (p.Glu28Lys) rs754220375 0.00001
NC_000003.11:g.(?_46899734)_(46904880_?)dup
NC_000003.11:g.(?_46904732)_(46904900_?)dup
NC_000003.11:g.(?_46904742)_(46904890_?)dup
NM_000258.3(MYL3):c.*13G>A
NM_000258.3(MYL3):c.*1A>C
NM_000258.3(MYL3):c.*205C>A rs886058581
NM_000258.3(MYL3):c.-15T>A
NM_000258.3(MYL3):c.-33T>C rs1702013209
NM_000258.3(MYL3):c.-6C>T
NM_000258.3(MYL3):c.100G>A (p.Glu34Lys)
NM_000258.3(MYL3):c.101A>T (p.Glu34Val)
NM_000258.3(MYL3):c.103G>A (p.Val35Ile) rs997633110
NM_000258.3(MYL3):c.110T>C (p.Phe37Ser) rs2106914314
NM_000258.3(MYL3):c.11A>G (p.Lys4Arg) rs727503301
NM_000258.3(MYL3):c.122A>G (p.Lys41Arg)
NM_000258.3(MYL3):c.124A>T (p.Ile42Phe) rs1322033572
NM_000258.3(MYL3):c.125T>C (p.Ile42Thr)
NM_000258.3(MYL3):c.127A>G (p.Lys43Glu) rs2106914291
NM_000258.3(MYL3):c.129+1G>T rs112545893
NM_000258.3(MYL3):c.130-1G>A rs1701987231
NM_000258.3(MYL3):c.133G>C (p.Glu45Gln) rs1701987196
NM_000258.3(MYL3):c.143C>T (p.Pro48Leu)
NM_000258.3(MYL3):c.14A>C (p.Lys5Thr)
NM_000258.3(MYL3):c.157+1G>A rs2106910461
NM_000258.3(MYL3):c.157+6del rs1482795996
NM_000258.3(MYL3):c.158-2A>G rs1701985013
NM_000258.3(MYL3):c.158-3C>A
NM_000258.3(MYL3):c.158-3C>G rs111668273
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.170C>T (p.Ala57Val) rs139794067
NM_000258.3(MYL3):c.175A>G (p.Met59Val)
NM_000258.3(MYL3):c.175A>T (p.Met59Leu) rs1575498261
NM_000258.3(MYL3):c.177G>A (p.Met59Ile)
NM_000258.3(MYL3):c.184G>A (p.Asp62Asn) rs730880954
NM_000258.3(MYL3):c.188G>C (p.Arg63Pro) rs139354105
NM_000258.3(MYL3):c.191C>T (p.Thr64Ile) rs1575498249
NM_000258.3(MYL3):c.193C>A (p.Pro65Thr)
NM_000258.3(MYL3):c.193C>G (p.Pro65Ala) rs730880960
NM_000258.3(MYL3):c.1A>G (p.Met1Val)
NM_000258.3(MYL3):c.1_2delinsG (p.Met1fs) rs1702012642
NM_000258.3(MYL3):c.200G>A (p.Cys67Tyr)
NM_000258.3(MYL3):c.206T>A (p.Met69Lys) rs1575498236
NM_000258.3(MYL3):c.206T>C (p.Met69Thr)
NM_000258.3(MYL3):c.210G>C (p.Lys70Asn)
NM_000258.3(MYL3):c.214A>G (p.Thr72Ala)
NM_000258.3(MYL3):c.215C>A (p.Thr72Asn)
NM_000258.3(MYL3):c.218A>G (p.Tyr73Cys) rs1701983870
NM_000258.3(MYL3):c.227G>A (p.Cys76Tyr) rs370857205
NM_000258.3(MYL3):c.229G>A (p.Gly77Arg) rs1559520411
NM_000258.3(MYL3):c.22C>A (p.Pro8Thr)
NM_000258.3(MYL3):c.230G>T (p.Gly77Val)
NM_000258.3(MYL3):c.232G>A (p.Asp78Asn)
NM_000258.3(MYL3):c.232G>T (p.Asp78Tyr)
NM_000258.3(MYL3):c.233A>T (p.Asp78Val)
NM_000258.3(MYL3):c.251G>C (p.Gly84Ala) rs1701983148
NM_000258.3(MYL3):c.258C>G (p.Asn86Lys)
NM_000258.3(MYL3):c.259C>T (p.Pro87Ser)
NM_000258.3(MYL3):c.265C>T (p.Gln89Ter) rs1701982801
NM_000258.3(MYL3):c.274G>A (p.Val92Met) rs770961856
NM_000258.3(MYL3):c.275T>C (p.Val92Ala)
NM_000258.3(MYL3):c.277C>T (p.Leu93Phe)
NM_000258.3(MYL3):c.280C>A (p.Arg94Ser) rs730880961
NM_000258.3(MYL3):c.281G>C (p.Arg94Pro)
NM_000258.3(MYL3):c.283G>T (p.Val95Phe) rs1553639921
NM_000258.3(MYL3):c.287T>C (p.Leu96Pro)
NM_000258.3(MYL3):c.289G>A (p.Gly97Arg)
NM_000258.3(MYL3):c.292A>G (p.Lys98Glu) rs730880957
NM_000258.3(MYL3):c.295C>G (p.Pro99Ala) rs1701982094
NM_000258.3(MYL3):c.296C>G (p.Pro99Arg) rs2106909627
NM_000258.3(MYL3):c.2del (p.Met1fs)
NM_000258.3(MYL3):c.306A>G (p.Glu102=)
NM_000258.3(MYL3):c.307+3A>G rs2106909563
NM_000258.3(MYL3):c.307+4G>C
NM_000258.3(MYL3):c.307+4G>T
NM_000258.3(MYL3):c.307+4del
NM_000258.3(MYL3):c.308-17G>T
NM_000258.3(MYL3):c.308-3C>T rs112911997
NM_000258.3(MYL3):c.310C>A (p.Leu104Ile)
NM_000258.3(MYL3):c.317C>T (p.Thr106Ile)
NM_000258.3(MYL3):c.318del (p.Lys107fs)
NM_000258.3(MYL3):c.31G>A (p.Asp11Asn)
NM_000258.3(MYL3):c.31G>T (p.Asp11Tyr)
NM_000258.3(MYL3):c.320A>G (p.Lys107Arg) rs1701969420
NM_000258.3(MYL3):c.326T>C (p.Met109Thr) rs1263399755
NM_000258.3(MYL3):c.337A>G (p.Thr113Ala)
NM_000258.3(MYL3):c.338C>T (p.Thr113Ile) rs397516278
NM_000258.3(MYL3):c.344T>C (p.Leu115Pro)
NM_000258.3(MYL3):c.349A>G (p.Met117Val) rs1701968895
NM_000258.3(MYL3):c.351dup (p.Leu118fs)
NM_000258.3(MYL3):c.358C>T (p.His120Tyr) rs1701968794
NM_000258.3(MYL3):c.365C>T (p.Ser122Phe)
NM_000258.3(MYL3):c.36T>G (p.Asp12Glu) rs138567316
NM_000258.3(MYL3):c.370A>T (p.Asn124Tyr) rs1278498849
NM_000258.3(MYL3):c.374A>G (p.Lys125Arg)
NM_000258.3(MYL3):c.37G>A (p.Ala13Thr)
NM_000258.3(MYL3):c.383G>A (p.Gly128Asp) rs869025485
NM_000258.3(MYL3):c.383G>C (p.Gly128Ala) rs869025485
NM_000258.3(MYL3):c.383G>T (p.Gly128Val)
NM_000258.3(MYL3):c.389A>G (p.Tyr130Cys)
NM_000258.3(MYL3):c.394G>A (p.Asp132Asn)
NM_000258.3(MYL3):c.397T>A (p.Phe133Ile) rs1553639870
NM_000258.3(MYL3):c.400G>A (p.Val134Met) rs776163180
NM_000258.3(MYL3):c.401_405dup (p.Gly136fs) rs1701967931
NM_000258.3(MYL3):c.40A>C (p.Lys14Gln) rs1702011948
NM_000258.3(MYL3):c.412C>T (p.Arg138Trp) rs1471322504
NM_000258.3(MYL3):c.413G>A (p.Arg138Gln) rs1057524652
NM_000258.3(MYL3):c.418T>C (p.Phe140Leu)
NM_000258.3(MYL3):c.419T>G (p.Phe140Cys) rs1559520147
NM_000258.3(MYL3):c.421G>A (p.Asp141Asn) rs1483805765
NM_000258.3(MYL3):c.421G>T (p.Asp141Tyr) rs1483805765
NM_000258.3(MYL3):c.424A>G (p.Lys142Glu) rs1553639863
NM_000258.3(MYL3):c.430G>A (p.Gly144Ser)
NM_000258.3(MYL3):c.431G>A (p.Gly144Asp)
NM_000258.3(MYL3):c.434A>C (p.Asn145Thr)
NM_000258.3(MYL3):c.435T>A (p.Asn145Lys) rs774762882
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423
NM_000258.3(MYL3):c.449G>A (p.Gly150Asp) rs1085307526
NM_000258.3(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000258.3(MYL3):c.452C>T (p.Ala151Val) rs876657895
NM_000258.3(MYL3):c.453_454insCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCA (p.Ala151_Glu152insLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspPro)
NM_000258.3(MYL3):c.454G>A (p.Glu152Lys) rs199474705
NM_000258.3(MYL3):c.454_458delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG (p.Glu152_Leu153delinsLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspProAspAlaProAlaAsnHisTyrCysMetSerProArg)
NM_000258.3(MYL3):c.455_456insT (p.Glu152fs)
NM_000258.3(MYL3):c.457del (p.Leu153fs) rs1064793448
NM_000258.3(MYL3):c.458_459insCCAGCAAACCATTACTGCATGTCACCACG (p.Arg154fs)
NM_000258.3(MYL3):c.463C>G (p.His155Asp) rs199474706
NM_000258.3(MYL3):c.464A>T (p.His155Leu)
NM_000258.3(MYL3):c.466G>C (p.Val156Leu) rs199474707
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000258.3(MYL3):c.480G>A (p.Leu160=)
NM_000258.3(MYL3):c.481+4A>G
NM_000258.3(MYL3):c.481G>A (p.Gly161Ser)
NM_000258.3(MYL3):c.481G>T (p.Gly161Cys) rs1356433667
NM_000258.3(MYL3):c.482-6T>C rs730880163
NM_000258.3(MYL3):c.482-9T>A rs1559519895
NM_000258.3(MYL3):c.484G>A (p.Glu162Lys) rs371642547
NM_000258.3(MYL3):c.485_501del (p.Glu162fs)
NM_000258.3(MYL3):c.486G>C (p.Glu162Asp)
NM_000258.3(MYL3):c.487A>G (p.Arg163Gly) rs2106905119
NM_000258.3(MYL3):c.488G>A (p.Arg163Lys) rs752165383
NM_000258.3(MYL3):c.494C>G (p.Thr165Arg) rs1701956180
NM_000258.3(MYL3):c.499G>A (p.Asp167Asn) rs1701956074
NM_000258.3(MYL3):c.49C>T (p.Pro17Ser) rs1702011848
NM_000258.3(MYL3):c.4G>T (p.Ala2Ser) rs148310342
NM_000258.3(MYL3):c.502G>C (p.Glu168Gln)
NM_000258.3(MYL3):c.503A>C (p.Glu168Ala)
NM_000258.3(MYL3):c.504del (p.Val169fs)
NM_000258.3(MYL3):c.505G>A (p.Val169Met)
NM_000258.3(MYL3):c.505G>C (p.Val169Leu)
NM_000258.3(MYL3):c.508G>A (p.Glu170Lys) rs864622538
NM_000258.3(MYL3):c.508G>C (p.Glu170Gln) rs864622538
NM_000258.3(MYL3):c.50C>G (p.Pro17Arg)
NM_000258.3(MYL3):c.518T>A (p.Met173Lys) rs730880962
NM_000258.3(MYL3):c.518T>C (p.Met173Thr) rs730880962
NM_000258.3(MYL3):c.520G>C (p.Ala174Pro) rs397516279
NM_000258.3(MYL3):c.52A>G (p.Lys18Glu) rs1702011793
NM_000258.3(MYL3):c.536C>A (p.Ser179Tyr) rs1701955175
NM_000258.3(MYL3):c.536C>T (p.Ser179Phe) rs1701955175
NM_000258.3(MYL3):c.539A>G (p.Asn180Ser) rs1575497410
NM_000258.3(MYL3):c.540T>G (p.Asn180Lys)
NM_000258.3(MYL3):c.541G>A (p.Gly181Ser)
NM_000258.3(MYL3):c.551A>G (p.Asn184Ser)
NM_000258.3(MYL3):c.553T>A (p.Tyr185Asn) rs2106904797
NM_000258.3(MYL3):c.556G>A (p.Glu186Lys)
NM_000258.3(MYL3):c.559+2T>C
NM_000258.3(MYL3):c.55G>T (p.Ala19Ser)
NM_000258.3(MYL3):c.560-1G>A rs1701953138
NM_000258.3(MYL3):c.560-1G>C rs1701953138
NM_000258.3(MYL3):c.560-2del rs1553639782
NM_000258.3(MYL3):c.560-3C>T rs869025488
NM_000258.3(MYL3):c.563_566dup (p.Lys190fs)
NM_000258.3(MYL3):c.568A>G (p.Lys190Glu) rs1701953031
NM_000258.3(MYL3):c.571C>G (p.His191Asp) rs869025487
NM_000258.3(MYL3):c.572A>C (p.His191Pro)
NM_000258.3(MYL3):c.572A>G (p.His191Arg)
NM_000258.3(MYL3):c.575T>A (p.Ile192Asn)
NM_000258.3(MYL3):c.577A>G (p.Met193Val) rs1701951996
NM_000258.3(MYL3):c.579G>A (p.Met193Ile) rs1701951962
NM_000258.3(MYL3):c.579del (p.Met193fs)
NM_000258.3(MYL3):c.58G>T (p.Ala20Ser)
NM_000258.3(MYL3):c.61C>G (p.Pro21Ala) rs779557153
NM_000258.3(MYL3):c.64G>T (p.Ala22Ser)
NM_000258.3(MYL3):c.65C>T (p.Ala22Val) rs2106914529
NM_000258.3(MYL3):c.69del (p.Ala24fs)
NM_000258.3(MYL3):c.74C>A (p.Pro25His)
NM_000258.3(MYL3):c.77C>G (p.Pro26Arg) rs1702011145
NM_000258.3(MYL3):c.79C>G (p.Pro27Ala) rs1248338056
NM_000258.3(MYL3):c.80C>G (p.Pro27Arg) rs1210373907
NM_000258.3(MYL3):c.8C>A (p.Pro3His) rs536404643
NM_000258.3(MYL3):c.91C>A (p.Arg31Ser) rs377026344
NM_000258.3(MYL3):c.94C>T (p.Pro32Ser)
NM_000258.3(MYL3):c.96T>A (p.Pro32=) rs886058582

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