ClinVar Miner

List of variants in gene MYH11 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu) rs757270167 0.00011
NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val) rs547038802 0.00008
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) rs552818350 0.00004
NM_002474.3(MYH11):c.2828C>A (p.Ala943Asp) rs763514919 0.00003
NM_002474.3(MYH11):c.2139G>C (p.Gln713His) rs779897931 0.00002
NM_002474.3(MYH11):c.2599C>T (p.Arg867Trp) rs745429737 0.00002
NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) rs534384552 0.00002
NM_002474.3(MYH11):c.487C>T (p.Arg163Trp) rs759409339 0.00002
NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu) rs750288554 0.00001
NM_002474.3(MYH11):c.1712A>T (p.Asp571Val) rs2041716956 0.00001
NM_002474.3(MYH11):c.2288T>C (p.Ile763Thr) rs944017240 0.00001
NM_002474.3(MYH11):c.2302A>G (p.Ile768Val) rs779331046 0.00001
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) rs773998062
NM_002474.3(MYH11):c.1262T>G (p.Val421Gly) rs777822332
NM_002474.3(MYH11):c.1671G>C (p.Gln557His)
NM_002474.3(MYH11):c.1763C>T (p.Ala588Val) rs794728667
NM_002474.3(MYH11):c.2153G>A (p.Arg718Gln) rs1286713310
NM_002474.3(MYH11):c.260T>C (p.Val87Ala)
NM_002474.3(MYH11):c.2620G>A (p.Glu874Lys) rs2151251130
NM_002474.3(MYH11):c.2653-6G>A rs200637980
NM_002474.3(MYH11):c.2989C>G (p.Leu997Val) rs2041228951
NM_002474.3(MYH11):c.3040A>G (p.Asn1014Asp) rs1347671761
NM_002474.3(MYH11):c.3131A>C (p.Lys1044Thr) rs2041158967
NM_002474.3(MYH11):c.3295C>T (p.Leu1099Phe) rs757497342
NM_002474.3(MYH11):c.3301G>A (p.Asp1101Asn) rs764532365
NM_002474.3(MYH11):c.3380T>C (p.Leu1127Pro) rs2041090629
NM_002474.3(MYH11):c.3651+5T>G rs794727439
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.3755A>T (p.His1252Leu)
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.3829G>A (p.Glu1277Lys)
NM_002474.3(MYH11):c.461T>G (p.Ile154Ser)
NM_002474.3(MYH11):c.633G>A (p.Thr211=) rs765225250
NM_002474.3(MYH11):c.746A>G (p.Asn249Ser)
NM_002474.3(MYH11):c.915C>G (p.Asn305Lys) rs2042105489

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