ClinVar Miner

List of variants in gene MYL2 reported as uncertain significance by Ambry Genetics

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000432.4(MYL2):c.374C>T (p.Thr125Met) rs375667565 0.00009
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) rs199567559 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.163G>T (p.Ala55Ser) rs727504425 0.00002
NM_000432.4(MYL2):c.203A>G (p.Glu68Gly) rs752456288 0.00002
NM_000432.4(MYL2):c.256T>C (p.Phe86Leu) rs765287559 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.436G>A (p.Val146Met) rs370075755 0.00002
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) rs863225117 0.00001
NM_000432.4(MYL2):c.170-1G>A rs1566148738 0.00001
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) rs199474809 0.00001
NM_000432.4(MYL2):c.229A>G (p.Ile77Val) rs373475989 0.00001
NM_000432.4(MYL2):c.255G>A (p.Met85Ile) rs1385880379 0.00001
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser) rs730880950 0.00001
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly) rs397516404 0.00001
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) rs727504341 0.00001
NM_000432.4(MYL2):c.103A>G (p.Ile35Val) rs730880946
NM_000432.4(MYL2):c.112C>A (p.Gln38Lys)
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.144T>A (p.Asp48Glu) rs2136774026
NM_000432.4(MYL2):c.185A>C (p.Lys62Thr)
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000432.4(MYL2):c.203A>C (p.Glu68Ala)
NM_000432.4(MYL2):c.247C>T (p.Leu83Phe)
NM_000432.4(MYL2):c.253A>G (p.Met85Val) rs1592800281
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.275G>A (p.Gly92Glu) rs727503297
NM_000432.4(MYL2):c.289G>A (p.Glu97Lys) rs1555257777
NM_000432.4(MYL2):c.298C>T (p.Leu100Phe)
NM_000432.4(MYL2):c.299_309del (p.Leu100fs) rs2071666850
NM_000432.4(MYL2):c.304G>A (p.Ala102Thr) rs369868176
NM_000432.4(MYL2):c.305C>T (p.Ala102Val) rs2071666913
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.4(MYL2):c.328G>A (p.Gly110Ser)
NM_000432.4(MYL2):c.335G>A (p.Gly112Glu)
NM_000432.4(MYL2):c.347C>T (p.Ala116Val) rs1566148270
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu) rs747192296
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.431del (p.Pro144fs) rs786205430
NM_000432.4(MYL2):c.442G>A (p.Gly148Ser)
NM_000432.4(MYL2):c.448T>G (p.Leu150Val)
NM_000432.4(MYL2):c.476T>C (p.Ile159Thr)
NM_000432.4(MYL2):c.476T>G (p.Ile159Ser)
NM_000432.4(MYL2):c.479C>A (p.Thr160Asn)
NM_000432.4(MYL2):c.479C>G (p.Thr160Ser) rs2071647980
NM_000432.4(MYL2):c.483C>A (p.His161Gln) rs886039108
NM_000432.4(MYL2):c.490G>A (p.Glu164Lys)
NM_000432.4(MYL2):c.493_495del (p.Lys165del)

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