ClinVar Miner

List of variants in gene MYL2 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 48
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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.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.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.459G>C (p.Lys153Asn) rs149078011 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.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000432.4(MYL2):c.101C>T (p.Thr34Ile) rs876657894 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.278C>A (p.Ala93Glu) rs774193307 0.00001
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) rs727504341 0.00001
NM_000432.4(MYL2):c.447C>T (p.Asn149=) rs397516405 0.00001
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.119G>T (p.Arg40Met) rs727503299
NM_000432.4(MYL2):c.141C>T (p.Asn47=) rs199474808
NM_000432.4(MYL2):c.142G>T (p.Asp48Tyr) rs727504405
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys) rs397516398
NM_000432.4(MYL2):c.237T>C (p.Phe79=) rs727503298
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.4(MYL2):c.260G>C (p.Gly87Ala) rs397516399
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000432.4(MYL2):c.275G>T (p.Gly92Val) rs727503297
NM_000432.4(MYL2):c.313G>A (p.Val105Met) rs397516401
NM_000432.4(MYL2):c.324T>C (p.Pro108=) rs397516403
NM_000432.4(MYL2):c.353+20del rs3833910
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp) rs397516404
NM_000432.4(MYL2):c.389T>G (p.Phe130Cys) rs727505071
NM_000432.4(MYL2):c.392C>G (p.Ser131Cys) rs727504357
NM_000432.4(MYL2):c.402G>C (p.Glu134Asp) rs727504408
NM_000432.4(MYL2):c.403-1G>T rs199474813
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) rs727504559
NM_000432.4(MYL2):c.429C>G (p.Pro143=) rs374328118
NM_000432.4(MYL2):c.480C>T (p.Thr160=) rs727505065
NM_000432.4(MYL2):c.482A>G (p.His161Arg) rs727503296
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.488A>C (p.Glu163Ala) rs397516407

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