ClinVar Miner

List of variants in gene MYL2 studied for Cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
Download table as spreadsheet
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.170-19T>C rs115522476 0.00399
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.274+9G>A rs371405579 0.00010
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.375G>A (p.Thr125=) rs190020833 0.00005
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.403-1G>C rs199474813 0.00004
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu) rs730880945 0.00004
NM_000432.4(MYL2):c.353+6T>A rs372824804 0.00003
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn) rs149078011 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.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.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.170-14G>C rs371431719 0.00001
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) rs199474809 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 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.256T>C (p.Phe86Leu) rs765287559 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.275-2A>G rs112557362 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.335G>A (p.Gly112Glu) rs918579283 0.00001
NM_000432.4(MYL2):c.347C>T (p.Ala116Val) rs1566148270 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.393C>G (p.Ser131=) rs778630692 0.00001
NM_000432.4(MYL2):c.403-11G>A rs1212140808 0.00001
NM_000432.4(MYL2):c.403-15G>C rs202105636 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.430C>G (p.Pro144Ala) rs777689913 0.00001
NM_000432.4(MYL2):c.435C>T (p.Asp145=) rs766907447 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.94-3C>T rs112865045 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.111C>T (p.Asp37=) rs1280758653
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.149G>A (p.Arg50Lys)
NM_000432.4(MYL2):c.151G>T (p.Asp51Tyr) rs2071683858
NM_000432.4(MYL2):c.156C>A (p.Thr52=) rs761358011
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 rs758237606
NM_000432.4(MYL2):c.172C>A (p.Arg58=) rs756671869
NM_000432.4(MYL2):c.172C>T (p.Arg58Ter) 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.193G>T (p.Glu65Ter) rs397516398
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.269T>G (p.Leu90Arg)
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000432.4(MYL2):c.274+6G>T rs776878088
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000432.4(MYL2):c.274+9GT[11] rs142567411
NM_000432.4(MYL2):c.274+9GT[8] rs142567411
NM_000432.4(MYL2):c.274+9del rs730880939
NM_000432.4(MYL2):c.275-1G>A rs764312941
NM_000432.4(MYL2):c.275G>A (p.Gly92Glu) rs727503297
NM_000432.4(MYL2):c.283C>T (p.Pro95Ser) rs121913658
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>A (p.Ala102Thr) rs369868176
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) rs1463626538
NM_000432.4(MYL2):c.341T>G (p.Leu114Arg) rs2071666465
NM_000432.4(MYL2):c.353+4A>C rs757267554
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=) rs1382853827
NM_000432.4(MYL2):c.391T>A (p.Ser131Thr) rs2071664458
NM_000432.4(MYL2):c.402+3A>G rs113740554
NM_000432.4(MYL2):c.402+4A>T
NM_000432.4(MYL2):c.403-1G>T rs199474813
NM_000432.4(MYL2):c.417C>T (p.Phe139=) rs781107246
NM_000432.4(MYL2):c.420C>G (p.Ala140=) rs369489428
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.428C>G (p.Pro143Arg)
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>G (p.Asp145Glu) 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.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.485G>A (p.Gly162Glu) rs397516406
NM_000432.4(MYL2):c.491_495del (p.Glu164fs) rs1592798444
NM_000432.4(MYL2):c.94-10C>T rs2071684471
NM_000432.4(MYL2):c.94-3C>G

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.