ClinVar Miner

List of variants in gene MYH11 reported as benign by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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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.2472C>T (p.Ala824=) rs1050113 0.26411
NM_002474.3(MYH11):c.417C>T (p.Val139=) rs1050111 0.10282
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.2061C>T (p.Ser687=) rs880071 0.06148
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_002474.3(MYH11):c.2412-9C>A rs148682361 0.01132
NM_002474.3(MYH11):c.387A>G (p.Lys129=) rs78754138 0.00965
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00243
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750 0.00106
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00050
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239 0.00029
NM_002474.3(MYH11):c.1512C>T (p.Ile504=) rs149630866 0.00029

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