ClinVar Miner

List of variants in gene MYL2 reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 32
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HGVS dbSNP gnomAD frequency
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.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.275-7G>A rs373241541 0.00006
NM_000432.4(MYL2):c.375G>A (p.Thr125=) rs190020833 0.00003
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 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.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000432.4(MYL2):c.111C>T (p.Asp37=) rs1280758653
NM_000432.4(MYL2):c.193G>T (p.Glu65Ter) rs397516398
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.275G>A (p.Gly92Glu) rs727503297
NM_000432.4(MYL2):c.304G>A (p.Ala102Thr) rs369868176
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) rs547860537
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.420C>G (p.Ala140=) rs369489428
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.435C>G (p.Asp145Glu) rs766907447
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.94-3C>T rs112865045

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