ClinVar Miner

List of variants in gene MYL2 reported by Color Diagnostics, LLC DBA Color Health

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.132T>C (p.Ile44=) rs2301610 0.08171
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088 0.00131
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927 0.00032
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000432.4(MYL2):c.275-14G>C rs375703502 0.00025
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
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.275-7G>A rs373241541 0.00006
NM_000432.4(MYL2):c.387G>A (p.Arg129=) rs774686046 0.00006
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) rs199567559 0.00005
NM_000432.4(MYL2):c.456C>T (p.Tyr152=) rs199815885 0.00005
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.375G>A (p.Thr125=) rs190020833 0.00003
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) rs201728041 0.00002
NM_000432.4(MYL2):c.216G>A (p.Glu72=) rs376506450 0.00002
NM_000432.4(MYL2):c.222G>A (p.Pro74=) rs372644111 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.402+6G>C rs749765328 0.00002
NM_000432.4(MYL2):c.430C>G (p.Pro144Ala) rs777689913 0.00002
NM_000432.4(MYL2):c.436G>A (p.Val146Met) rs370075755 0.00002
NM_000432.4(MYL2):c.468G>A (p.Val156=) rs137984206 0.00002
NM_000432.4(MYL2):c.474C>T (p.Ile158=) rs1423130699 0.00002
NM_000432.4(MYL2):c.*3G>A rs530713211 0.00001
NM_000432.4(MYL2):c.101C>T (p.Thr34Ile) rs876657894 0.00001
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.147G>A (p.Leu49=) rs749936467 0.00001
NM_000432.4(MYL2):c.156C>A (p.Thr52=) rs761358011 0.00001
NM_000432.4(MYL2):c.170-14G>C rs371431719 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.257T>C (p.Phe86Ser) rs730880950 0.00001
NM_000432.4(MYL2):c.275-12G>A rs750937792 0.00001
NM_000432.4(MYL2):c.275-8C>T rs765328765 0.00001
NM_000432.4(MYL2):c.303C>T (p.Asn101=) rs1317472220 0.00001
NM_000432.4(MYL2):c.315G>C (p.Val105=) rs768415509 0.00001
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly) rs397516404 0.00001
NM_000432.4(MYL2):c.393C>G (p.Ser131=) rs778630692 0.00001
NM_000432.4(MYL2):c.403-11G>A rs1212140808 0.00001
NM_000432.4(MYL2):c.403-6T>C rs763332557 0.00001
NM_000432.4(MYL2):c.403-8C>T rs1440682502 0.00001
NM_000432.4(MYL2):c.408C>T (p.Asp136=) rs1356499130 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.447C>T (p.Asn149=) rs397516405 0.00001
NM_000432.4(MYL2):c.450G>A (p.Leu150=) rs1379018063 0.00001
NM_000432.4(MYL2):c.472A>G (p.Ile158Val) rs2071648139 0.00001
NM_000432.4(MYL2):c.483C>T (p.His161=) rs886039108 0.00001
NM_000432.4(MYL2):c.103A>G (p.Ile35Val) rs730880946
NM_000432.4(MYL2):c.110A>G (p.Asp37Gly) rs2136774114
NM_000432.4(MYL2):c.135C>A (p.Asp45Glu) rs199474807
NM_000432.4(MYL2):c.135C>T (p.Asp45=) rs199474807
NM_000432.4(MYL2):c.139A>T (p.Asn47Tyr) rs2136774049
NM_000432.4(MYL2):c.141C>T (p.Asn47=) rs199474808
NM_000432.4(MYL2):c.142G>C (p.Asp48His) rs727504405
NM_000432.4(MYL2):c.144T>A (p.Asp48Glu) rs2136774026
NM_000432.4(MYL2):c.151G>T (p.Asp51Tyr) rs2071683858
NM_000432.4(MYL2):c.161C>T (p.Ala54Val) rs2136773989
NM_000432.4(MYL2):c.170-20GT[3] rs764824483
NM_000432.4(MYL2):c.170-4C>T
NM_000432.4(MYL2):c.172C>A (p.Arg58=) rs756671869
NM_000432.4(MYL2):c.174A>G (p.Arg58=) rs777225996
NM_000432.4(MYL2):c.176T>A (p.Val59Glu) rs2071674771
NM_000432.4(MYL2):c.181G>A (p.Val61Met) rs730880949
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000432.4(MYL2):c.216G>C (p.Glu72Asp) rs376506450
NM_000432.4(MYL2):c.241G>A (p.Val81Met) rs762872370
NM_000432.4(MYL2):c.275-1G>A rs764312941
NM_000432.4(MYL2):c.275-2A>G rs112557362
NM_000432.4(MYL2):c.298C>G (p.Leu100Val) rs573898913
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>T (p.Ala102Ser) rs369868176
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.4(MYL2):c.310A>C (p.Lys104Gln) rs199474811
NM_000432.4(MYL2):c.310A>G (p.Lys104Glu) rs199474811
NM_000432.4(MYL2):c.316_319del (p.Phe106fs) rs2071666714
NM_000432.4(MYL2):c.337dup (p.Val113fs)
NM_000432.4(MYL2):c.341T>G (p.Leu114Arg) rs2071666465
NM_000432.4(MYL2):c.347C>T (p.Ala116Val) rs1566148270
NM_000432.4(MYL2):c.353+6T>A rs372824804
NM_000432.4(MYL2):c.354-8C>G rs767657562
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp) rs397516404
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu) rs1064796377
NM_000432.4(MYL2):c.384G>A (p.Glu128=)
NM_000432.4(MYL2):c.391T>A (p.Ser131Thr)
NM_000432.4(MYL2):c.402+3A>G rs113740554
NM_000432.4(MYL2):c.403-15G>C rs202105636
NM_000432.4(MYL2):c.417C>T (p.Phe139=) rs781107246
NM_000432.4(MYL2):c.420C>T (p.Ala140=) rs369489428
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu) rs747192296
NM_000432.4(MYL2):c.426C>T (p.Phe142=) rs1592798603
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.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.433G>T (p.Asp145Tyr) rs199567559
NM_000432.4(MYL2):c.435C>T (p.Asp145=) rs766907447
NM_000432.4(MYL2):c.438dup (p.Thr147fs) rs2071649166
NM_000432.4(MYL2):c.441_442insTCACT (p.Gly148fs) rs2071649075
NM_000432.4(MYL2):c.449T>C (p.Leu150Ser) rs2071648869
NM_000432.4(MYL2):c.463C>T (p.Leu155=) rs1592798503
NM_000432.4(MYL2):c.475A>G (p.Ile159Val) rs747098269
NM_000432.4(MYL2):c.480C>T (p.Thr160=) rs727505065
NM_000432.4(MYL2):c.94-10C>T rs2071684471
NM_000432.4(MYL2):c.94-3C>T rs112865045

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