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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 96

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HGVS	dbSNP	gnomAD frequency
NM_002474.3(MYH11):c.1743T>C (p.Ala581=)	rs2272554	0.49695
NM_002474.3(MYH11):c.2472C>T (p.Ala824=)	rs1050113	0.26411
NM_002474.3(MYH11):c.417C>T (p.Val139=)	rs1050111	0.10480
NM_002474.3(MYH11):c.2079C>T (p.Phe693=)	rs34287137	0.06287
NM_002474.3(MYH11):c.135C>T (p.Phe45=)	rs28570191	0.04299
NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr)	rs34263860	0.01232
NM_002474.3(MYH11):c.2412-9C>A	rs148682361	0.01132
NM_002474.3(MYH11):c.387A>G (p.Lys129=)	rs78754138	0.01024
NM_002474.3(MYH11):c.1419G>A (p.Gln473=)	rs61734198	0.00535
NM_002474.3(MYH11):c.453G>A (p.Pro151=)	rs61734199	0.00242
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)	rs113154524	0.00240
NM_002474.3(MYH11):c.3652-6C>T	rs193922630	0.00219
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)	rs150759461	0.00174
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)	rs137988790	0.00155
NM_002474.3(MYH11):c.291C>T (p.Asn97=)	rs113363750	0.00106
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)	rs181744522	0.00080
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)	rs111404182	0.00079
NM_002474.3(MYH11):c.633+1942T>C	rs199755371	0.00065
NM_002474.3(MYH11):c.2049C>T (p.His683=)	rs150924100	0.00061
NM_002474.3(MYH11):c.429G>A (p.Lys143=)	rs200672270	0.00056
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)	rs112861184	0.00053
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)	rs111936548	0.00052
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)	rs112990531	0.00046
NM_002474.3(MYH11):c.471C>T (p.Ile157=)	rs140267000	0.00036
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)	rs375998236	0.00034
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu)	rs35035518	0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)	rs113696032	0.00031
NM_002474.3(MYH11):c.1502G>A (p.Arg501His)	rs144244239	0.00029
NM_002474.3(MYH11):c.1512C>T (p.Ile504=)	rs149630866	0.00028
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)	rs148893135	0.00028
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)	rs185661462	0.00026
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)	rs138977949	0.00024
NM_002474.3(MYH11):c.6G>A (p.Ala2=)	rs762011909	0.00018
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=)	rs149980738	0.00017
NM_002474.3(MYH11):c.2541G>A (p.Val847=)	rs373920725	0.00016
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.1017C>T (p.Ser339=)	rs112161189	0.00014
NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu)	rs757270167	0.00011
NM_002474.3(MYH11):c.2658C>T (p.Thr886=)	rs199587784	0.00010
NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val)	rs547038802	0.00008
NM_002474.3(MYH11):c.1434C>T (p.Tyr478=)	rs763773359	0.00007
NM_002474.3(MYH11):c.1575+7G>A	rs754750176	0.00004
NM_002474.3(MYH11):c.1608C>T (p.Asp536=)	rs374769912	0.00004
NM_002474.3(MYH11):c.2226C>T (p.Asp742=)	rs745850224	0.00004
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met)	rs552818350	0.00004
NM_002474.3(MYH11):c.831C>T (p.Asp277=)	rs113537940	0.00004
NM_002474.3(MYH11):c.1503C>T (p.Arg501=)	rs776843079	0.00003
NM_002474.3(MYH11):c.2828C>A (p.Ala943Asp)	rs763514919	0.00003
NM_002474.3(MYH11):c.2082G>A (p.Leu694=)	rs370934806	0.00002
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.273G>A (p.Ala91=)	rs549825667	0.00001
NM_002474.3(MYH11):c.27C>T (p.Asp9=)	rs769179119	0.00001
NM_002474.3(MYH11):c.3300C>T (p.Asp1100=)	rs761918065	0.00001
NM_002474.3(MYH11):c.3561G>A (p.Thr1187=)	rs139271438	0.00001
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=)	rs752821481	0.00001
NM_002474.3(MYH11):c.1032A>G (p.Leu344=)	rs112474866
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.1575+8del	rs769321167
NM_002474.3(MYH11):c.1671G>C (p.Gln557His)
NM_002474.3(MYH11):c.1763C>T (p.Ala588Val)	rs794728667
NM_002474.3(MYH11):c.1764G>C (p.Ala588=)	rs375133214
NM_002474.3(MYH11):c.2153G>A (p.Arg718Gln)	rs1286713310
NM_002474.3(MYH11):c.225C>T (p.Asp75=)
NM_002474.3(MYH11):c.2412-9C>G	rs148682361
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.2655G>A (p.Leu885=)	rs760141485
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.3441G>A (p.Glu1147=)	rs1567712736
NM_002474.3(MYH11):c.3651+5T>G	rs794727439
NM_002474.3(MYH11):c.3651+5_3651+11delinsG	rs371843272
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.3805A>G (p.Ser1269Gly)	rs200012419
NM_002474.3(MYH11):c.3829G>A (p.Glu1277Lys)
NM_002474.3(MYH11):c.414C>A (p.Ile138=)	rs1162127083
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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