ClinVar Miner

List of variants in gene MYL2 reported as uncertain significance for Hypertrophic cardiomyopathy 10

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Gene type:
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Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000432.4(MYL2):c.*102C>A rs542961456 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) rs192057022 0.00009
NM_000432.4(MYL2):c.374C>T (p.Thr125Met) rs375667565 0.00009
NM_000432.4(MYL2):c.*10C>T rs193922452 0.00007
NM_000432.4(MYL2):c.*166G>A rs376236989 0.00007
NM_000432.4(MYL2):c.418G>A (p.Ala140Thr) rs1467265277 0.00006
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) rs199567559 0.00005
NM_000432.4(MYL2):c.469C>T (p.His157Tyr) rs777223055 0.00005
NM_000432.4(MYL2):c.274+8_274+9insAT rs572538551 0.00004
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn) rs149078011 0.00004
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu) rs730880945 0.00004
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425 0.00002
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) rs201728041 0.00002
NM_000432.4(MYL2):c.203A>G (p.Glu68Gly) rs752456288 0.00002
NM_000432.4(MYL2):c.256T>C (p.Phe86Leu) rs765287559 0.00002
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000432.4(MYL2):c.380C>T (p.Ala127Val) rs141878747 0.00002
NM_000432.4(MYL2):c.402+6G>C rs749765328 0.00002
NM_000432.4(MYL2):c.430C>G (p.Pro144Ala) rs777689913 0.00002
NM_000432.4(MYL2):c.431C>G (p.Pro144Arg) rs755993281 0.00002
NM_000432.4(MYL2):c.436G>A (p.Val146Met) rs370075755 0.00002
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) rs863225117 0.00001
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn) rs727504405 0.00001
NM_000432.4(MYL2):c.170-1G>A rs1566148738 0.00001
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) rs199474809 0.00001
NM_000432.4(MYL2):c.206T>C (p.Met69Thr) rs2071674449 0.00001
NM_000432.4(MYL2):c.221C>T (p.Pro74Leu) rs942467544 0.00001
NM_000432.4(MYL2):c.229A>G (p.Ile77Val) rs373475989 0.00001
NM_000432.4(MYL2):c.255G>A (p.Met85Ile) rs1385880379 0.00001
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser) rs730880950 0.00001
NM_000432.4(MYL2):c.275-12G>A rs750937792 0.00001
NM_000432.4(MYL2):c.278C>T (p.Ala93Val) rs774193307 0.00001
NM_000432.4(MYL2):c.354C>T (p.Tyr118=) rs750193844 0.00001
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly) rs397516404 0.00001
NM_000432.4(MYL2):c.403-6T>C rs763332557 0.00001
NM_000432.4(MYL2):c.413T>A (p.Met138Lys) rs748760581 0.00001
NM_000432.4(MYL2):c.422C>A (p.Ala141Asp) rs1024307408 0.00001
NM_000432.4(MYL2):c.427C>A (p.Pro143Thr) rs1555257600 0.00001
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) rs727504341 0.00001
NM_000432.4(MYL2):c.472A>G (p.Ile158Val) rs2071648139 0.00001
NC_000012.11:g.(?_111348861)_(111348999_?)del
NC_000012.11:g.(?_111348881)_(111358333_?)del
NC_000012.11:g.(?_111348881)_(111358333_?)dup
NC_000012.11:g.(?_111350880)_(111352114_?)dup
NC_000012.11:g.(?_111356888)_(111358333_?)del
NM_000432.4(MYL2):c.*84C>T rs867853414
NM_000432.4(MYL2):c.101C>A (p.Thr34Asn)
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.119G>C (p.Arg40Thr) rs727503299
NM_000432.4(MYL2):c.119G>T (p.Arg40Met) rs727503299
NM_000432.4(MYL2):c.122A>T (p.Asp41Val)
NM_000432.4(MYL2):c.133G>A (p.Asp45Asn) rs1363460648
NM_000432.4(MYL2):c.133G>C (p.Asp45His)
NM_000432.4(MYL2):c.135C>A (p.Asp45Glu) rs199474807
NM_000432.4(MYL2):c.142G>T (p.Asp48Tyr) rs727504405
NM_000432.4(MYL2):c.160G>A (p.Ala54Thr)
NM_000432.4(MYL2):c.160G>T (p.Ala54Ser) rs1171745073
NM_000432.4(MYL2):c.161C>T (p.Ala54Val) rs2136773989
NM_000432.4(MYL2):c.166_169+13del
NM_000432.4(MYL2):c.167T>C (p.Leu56Pro)
NM_000432.4(MYL2):c.169+3A>T
NM_000432.4(MYL2):c.169+6T>G
NM_000432.4(MYL2):c.169G>A (p.Gly57Arg) rs2428140
NM_000432.4(MYL2):c.172C>G (p.Arg58Gly)
NM_000432.4(MYL2):c.172C>T (p.Arg58Ter) rs756671869
NM_000432.4(MYL2):c.175G>A (p.Val59Met) rs2071674789
NM_000432.4(MYL2):c.181G>A (p.Val61Met) rs730880949
NM_000432.4(MYL2):c.181G>C (p.Val61Leu) rs730880949
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys) rs397516398
NM_000432.4(MYL2):c.197_203del (p.Ile66fs) rs2136772297
NM_000432.4(MYL2):c.205A>C (p.Met69Leu) rs2136772287
NM_000432.4(MYL2):c.207G>T (p.Met69Ile) rs866041854
NM_000432.4(MYL2):c.212A>T (p.Lys71Met) rs2136772274
NM_000432.4(MYL2):c.217G>T (p.Ala73Ser) rs2136772254
NM_000432.4(MYL2):c.218C>A (p.Ala73Asp) rs2136772253
NM_000432.4(MYL2):c.220C>T (p.Pro74Ser) rs2136772247
NM_000432.4(MYL2):c.221C>G (p.Pro74Arg)
NM_000432.4(MYL2):c.224G>T (p.Gly75Val)
NM_000432.4(MYL2):c.230T>C (p.Ile77Thr)
NM_000432.4(MYL2):c.232A>G (p.Asn78Asp) rs2136772211
NM_000432.4(MYL2):c.240del (p.Val81fs) rs2071674087
NM_000432.4(MYL2):c.247C>G (p.Leu83Val) rs2071673990
NM_000432.4(MYL2):c.253A>G (p.Met85Val) rs1592800281
NM_000432.4(MYL2):c.254T>C (p.Met85Thr) rs1592800278
NM_000432.4(MYL2):c.259G>A (p.Gly87Arg) rs2136772130
NM_000432.4(MYL2):c.259G>C (p.Gly87Arg)
NM_000432.4(MYL2):c.262G>A (p.Glu88Lys) rs869025484
NM_000432.4(MYL2):c.263A>C (p.Glu88Ala)
NM_000432.4(MYL2):c.274+4A>C
NM_000432.4(MYL2):c.274+4A>G rs2136772104
NM_000432.4(MYL2):c.274+6G>T rs776878088
NM_000432.4(MYL2):c.274G>A (p.Gly92Arg) rs1358384301
NM_000432.4(MYL2):c.275-2A>G rs112557362
NM_000432.4(MYL2):c.275-8C>A rs765328765
NM_000432.4(MYL2):c.275G>A (p.Gly92Glu) rs727503297
NM_000432.4(MYL2):c.275G>T (p.Gly92Val) rs727503297
NM_000432.4(MYL2):c.277G>C (p.Ala93Pro)
NM_000432.4(MYL2):c.283C>T (p.Pro95Ser) rs121913658
NM_000432.4(MYL2):c.284C>T (p.Pro95Leu)
NM_000432.4(MYL2):c.289G>A (p.Glu97Lys) rs1555257777
NM_000432.4(MYL2):c.290A>T (p.Glu97Val) rs2136770896
NM_000432.4(MYL2):c.295A>G (p.Ile99Val) rs2136770879
NM_000432.4(MYL2):c.299_309del (p.Leu100fs) rs2071666850
NM_000432.4(MYL2):c.302A>G (p.Asn101Ser) rs886048960
NM_000432.4(MYL2):c.304G>A (p.Ala102Thr) rs369868176
NM_000432.4(MYL2):c.304G>T (p.Ala102Ser) rs369868176
NM_000432.4(MYL2):c.305C>T (p.Ala102Val) rs2071666913
NM_000432.4(MYL2):c.310A>G (p.Lys104Glu) rs199474811
NM_000432.4(MYL2):c.313G>A (p.Val105Met) rs397516401
NM_000432.4(MYL2):c.316_319del (p.Phe106fs) rs2071666714
NM_000432.4(MYL2):c.322C>T (p.Pro108Ser) rs1555257773
NM_000432.4(MYL2):c.325G>T (p.Glu109Ter) rs2136770789
NM_000432.4(MYL2):c.333del (p.Val113fs)
NM_000432.4(MYL2):c.337G>C (p.Val113Leu)
NM_000432.4(MYL2):c.337G>T (p.Val113Leu)
NM_000432.4(MYL2):c.341_348dup (p.Asp117Ter)
NM_000432.4(MYL2):c.347C>T (p.Ala116Val) rs1566148270
NM_000432.4(MYL2):c.352dup (p.Tyr118fs) rs2136770744
NM_000432.4(MYL2):c.353+4A>C rs757267554
NM_000432.4(MYL2):c.353+6T>A rs372824804
NM_000432.4(MYL2):c.353A>C (p.Tyr118Ser)
NM_000432.4(MYL2):c.354-3C>G rs758158083
NM_000432.4(MYL2):c.356T>A (p.Val119Asp) rs2136770460
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp) rs397516404
NM_000432.4(MYL2):c.359G>T (p.Arg120Leu) rs192057022
NM_000432.4(MYL2):c.374C>A (p.Thr125Lys) rs375667565
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu) rs1064796377
NM_000432.4(MYL2):c.382G>A (p.Glu128Lys)
NM_000432.4(MYL2):c.389T>A (p.Phe130Tyr)
NM_000432.4(MYL2):c.391T>A (p.Ser131Thr)
NM_000432.4(MYL2):c.394A>C (p.Lys132Gln) rs1387580638
NM_000432.4(MYL2):c.394A>G (p.Lys132Glu)
NM_000432.4(MYL2):c.400G>T (p.Glu134Ter) rs2136770365
NM_000432.4(MYL2):c.402+1G>T rs1555257746
NM_000432.4(MYL2):c.402+8G>T rs886048959
NM_000432.4(MYL2):c.403-3C>A
NM_000432.4(MYL2):c.403G>T (p.Val135Phe)
NM_000432.4(MYL2):c.409C>T (p.Gln137Ter)
NM_000432.4(MYL2):c.419C>T (p.Ala140Val)
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) rs727504559
NM_000432.4(MYL2):c.424T>A (p.Phe142Ile)
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu) rs747192296
NM_000432.4(MYL2):c.425T>C (p.Phe142Ser) rs1414230972
NM_000432.4(MYL2):c.426C>A (p.Phe142Leu)
NM_000432.4(MYL2):c.430C>A (p.Pro144Thr) rs777689913
NM_000432.4(MYL2):c.430C>T (p.Pro144Ser) rs777689913
NM_000432.4(MYL2):c.431C>A (p.Pro144His) rs755993281
NM_000432.4(MYL2):c.431C>T (p.Pro144Leu)
NM_000432.4(MYL2):c.431del (p.Pro144fs) rs786205430
NM_000432.4(MYL2):c.432del (p.Asp145fs) rs2071649414
NM_000432.4(MYL2):c.434A>G (p.Asp145Gly) rs1255677666
NM_000432.4(MYL2):c.436G>C (p.Val146Leu)
NM_000432.4(MYL2):c.450G>T (p.Leu150Phe)
NM_000432.4(MYL2):c.454T>G (p.Tyr152Asp) rs766036025
NM_000432.4(MYL2):c.470A>G (p.His157Arg) rs730880951
NM_000432.4(MYL2):c.473TCA[3] (p.Ile159dup) rs1566147363
NM_000432.4(MYL2):c.475A>G (p.Ile159Val) rs747098269
NM_000432.4(MYL2):c.476T>C (p.Ile159Thr)
NM_000432.4(MYL2):c.479C>G (p.Thr160Ser) rs2071647980
NM_000432.4(MYL2):c.483C>A (p.His161Gln) rs886039108
NM_000432.4(MYL2):c.483C>G (p.His161Gln)
NM_000432.4(MYL2):c.484G>T (p.Gly162Ter) rs199474814
NM_000432.4(MYL2):c.487G>A (p.Glu163Lys) rs1131692323
NM_000432.4(MYL2):c.487G>C (p.Glu163Gln) rs1131692323
NM_000432.4(MYL2):c.488A>G (p.Glu163Gly) rs397516407
NM_000432.4(MYL2):c.490G>A (p.Glu164Lys)
NM_000432.4(MYL2):c.491A>T (p.Glu164Val)
NM_000432.4(MYL2):c.493A>G (p.Lys165Glu)
NM_000432.4(MYL2):c.496G>A (p.Asp166Asn) rs730880952
NM_000432.4(MYL2):c.496G>C (p.Asp166His) rs730880952
NM_000432.4(MYL2):c.497A>C (p.Asp166Ala) rs199474815
NM_000432.4(MYL2):c.499T>G (p.Ter167Glu) rs2071647433
NM_000432.4(MYL2):c.94-1G>C
NM_000432.4(MYL2):c.94-3C>T rs112865045
NM_000432.4(MYL2):c.95C>T (p.Ala32Val)

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