ClinVar Miner

List of variants in gene MYH11 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
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.57C>T (p.Asn19=) rs148464745 0.00111
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.12G>A (p.Lys4=) rs112650390 0.00057
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.3816G>A (p.Glu1272=) rs112990531 0.00046
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.2802G>A (p.Glu934=) rs138977949 0.00024
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_002474.3(MYH11):c.690C>T (p.Asn230=) rs561105158 0.00009
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326 0.00008
NM_002474.3(MYH11):c.1440C>T (p.Asn480=) rs554373758 0.00003
NM_002474.3(MYH11):c.1077C>T (p.Ile359=) rs763238555 0.00002
NM_002474.3(MYH11):c.1413C>T (p.Phe471=) rs758885290 0.00002
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467 0.00002
NM_002474.3(MYH11):c.1402-12C>G rs769036516 0.00001
NM_002474.3(MYH11):c.1569G>A (p.Glu523=) rs1555562769
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.232A>G (p.Lys78Glu) rs2151381334

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