ClinVar Miner

List of variants in gene MYH11 reported as likely benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
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.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.2893G>T (p.Ala965Ser) rs113696032 0.00031
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.633+1900G>A rs371799677 0.00013
NM_002474.3(MYH11):c.1575+7G>A rs754750176 0.00004
NM_002474.3(MYH11):c.1077C>T (p.Ile359=) rs763238555 0.00002
NM_002474.3(MYH11):c.3294-10del rs756946356 0.00001
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.2998-18_2998-17del rs746744616

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