ClinVar Miner

List of variants in gene MYL2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.170-160C>G rs34254113 0.21528
NM_000432.4(MYL2):c.403-244T>C rs12231049 0.13992
NM_000432.4(MYL2):c.94-168G>A rs61942999 0.12075
NM_000432.4(MYL2):c.132T>C (p.Ile44=) rs2301610 0.08171
NM_000432.4(MYL2):c.402+245T>C rs3782889 0.06943
NM_000432.4(MYL2):c.402+129G>A rs3825389 0.06928
NM_000432.4(MYL2):c.274+53G>A rs11065770 0.05569
NM_000432.4(MYL2):c.353+47del rs369884745 0.03692
NM_000432.4(MYL2):c.274+339C>T rs61940352 0.01252
NM_000432.4(MYL2):c.170-153A>G rs76474479 0.01224
NM_000432.4(MYL2):c.94-169C>G rs183919685 0.00921
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.*127C>T rs546464364 0.00037
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927 0.00032
NM_000432.4(MYL2):c.*102C>A rs542961456 0.00029
NM_000432.4(MYL2):c.275-14G>C rs375703502 0.00025
NM_000432.4(MYL2):c.353+12C>A rs186323458 0.00022
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_000432.4(MYL2):c.274+8C>T rs397516400 0.00014
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.*29C>T rs371503244 0.00006
NM_000432.4(MYL2):c.275-7G>A rs373241541 0.00006
NM_000432.4(MYL2):c.456C>T (p.Tyr152=) rs199815885 0.00005
NM_000432.4(MYL2):c.469C>T (p.His157Tyr) rs777223055 0.00005
NM_000432.4(MYL2):c.403-1G>C rs199474813 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.354-18G>A rs752927354 0.00003
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.222G>A (p.Pro74=) rs372644111 0.00002
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000432.4(MYL2):c.366G>T (p.Met122Ile) rs374439285 0.00002
NM_000432.4(MYL2):c.380C>T (p.Ala127Val) rs141878747 0.00002
NM_000432.4(MYL2):c.431C>G (p.Pro144Arg) rs755993281 0.00002
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.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.278C>A (p.Ala93Glu) rs774193307 0.00001
NM_000432.4(MYL2):c.315G>C (p.Val105=) rs768415509 0.00001
NM_000432.4(MYL2):c.413T>A (p.Met138Lys) rs748760581 0.00001
NM_000432.4(MYL2):c.*117A>C rs192821062
NM_000432.4(MYL2):c.*18C>G rs550546518
NM_000432.4(MYL2):c.*53C>G rs1592798356
NM_000432.4(MYL2):c.*9T>C rs2136767504
NM_000432.4(MYL2):c.113A>G (p.Gln38Arg) rs730880947
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.141C>T (p.Asn47=) rs199474808
NM_000432.4(MYL2):c.169+198del rs3216888
NM_000432.4(MYL2):c.170-20GT[3] rs764824483
NM_000432.4(MYL2):c.170-54T>C rs7980471
NM_000432.4(MYL2):c.173G>T (p.Arg58Leu) rs104894369
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>A (p.Glu65Lys) rs397516398
NM_000432.4(MYL2):c.217del (p.Ala73fs) rs2136772257
NM_000432.4(MYL2):c.220C>T (p.Pro74Ser) rs2136772247
NM_000432.4(MYL2):c.232A>G (p.Asn78Asp) rs2136772211
NM_000432.4(MYL2):c.259G>A (p.Gly87Arg) rs2136772130
NM_000432.4(MYL2):c.260G>A (p.Gly87Glu) rs397516399
NM_000432.4(MYL2):c.260G>C (p.Gly87Ala) rs397516399
NM_000432.4(MYL2):c.274+10del rs2136772075
NM_000432.4(MYL2):c.274+15G>C rs587781090
NM_000432.4(MYL2):c.274+15del rs2136772062
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000432.4(MYL2):c.274+17G>C rs201782797
NM_000432.4(MYL2):c.274+25_274+26insGT rs2136772037
NM_000432.4(MYL2):c.274+27del rs2136772020
NM_000432.4(MYL2):c.274+59del rs971115394
NM_000432.4(MYL2):c.274+8del rs2136772096
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000432.4(MYL2):c.274+9GT[8] rs142567411
NM_000432.4(MYL2):c.274+9del rs730880939
NM_000432.4(MYL2):c.275-76A>C rs146401175
NM_000432.4(MYL2):c.289G>T (p.Glu97Ter) rs1555257777
NM_000432.4(MYL2):c.294C>T (p.Thr98=) rs1555257776
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.4(MYL2):c.347C>T (p.Ala116Val) rs1566148270
NM_000432.4(MYL2):c.353+20del rs3833910
NM_000432.4(MYL2):c.353+46dup rs142220381
NM_000432.4(MYL2):c.353+51C>A rs2233260
NM_000432.4(MYL2):c.353+51C>T rs2233260
NM_000432.4(MYL2):c.354-3C>G rs758158083
NM_000432.4(MYL2):c.354-6C>G rs977023771
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu) rs1064796377
NM_000432.4(MYL2):c.402+17A>G rs1555257745
NM_000432.4(MYL2):c.402+1G>T rs1555257746
NM_000432.4(MYL2):c.402+93C>T rs61940351
NM_000432.4(MYL2):c.403-96del rs72145780
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) rs727504559
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu) rs747192296
NM_000432.4(MYL2):c.430C>T (p.Pro144Ser) rs777689913
NM_000432.4(MYL2):c.454T>C (p.Tyr152His)
NM_000432.4(MYL2):c.455A>G (p.Tyr152Cys)
NM_000432.4(MYL2):c.470A>G (p.His157Arg) rs730880951
NM_000432.4(MYL2):c.479C>G (p.Thr160Ser) rs2071647980
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.488A>G (p.Glu163Gly) rs397516407
NM_000432.4(MYL2):c.496G>A (p.Asp166Asn) rs730880952
NM_000432.4(MYL2):c.496G>T (p.Asp166Tyr) rs730880952
NM_000432.4(MYL2):c.93+183_93+186del rs200763840

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