ClinVar Miner

List of variants in gene MYH11 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 14
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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.1249-11G>C rs2280764 0.46907
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.987C>T (p.Thr329=) rs4781689 0.08684
NM_002474.3(MYH11):c.2208C>T (p.Ile736=) rs12931799 0.07252
NM_002474.3(MYH11):c.2079C>T (p.Phe693=) rs34287137 0.06287
NM_002474.3(MYH11):c.2061C>T (p.Ser687=) rs880071 0.06148
NM_002474.3(MYH11):c.135C>T (p.Phe45=) rs28570191 0.04299
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_002474.3(MYH11):c.3480C>T (p.Asp1160=) rs771004572 0.00002
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) rs773998062
NM_002474.3(MYH11):c.3778C>T (p.Gln1260Ter) rs1060499879

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