ClinVar Miner

List of variants in gene combination MYH8, MYHAS reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_002472.3(MYH8):c.4470del (p.Tyr1491fs) rs1060499730 0.00004
NM_002472.3(MYH8):c.1966-2A>G rs747170484 0.00003
NM_002472.3(MYH8):c.2557G>A (p.Ala853Thr) rs1319449107 0.00003
NM_002472.3(MYH8):c.5789T>G (p.Val1930Gly) rs1346984851 0.00003
NM_002472.3(MYH8):c.4846A>T (p.Arg1616Ter) rs778961328 0.00001
NM_002472.3(MYH8):c.1408del (p.Ile470fs) rs1060499728
NM_002472.3(MYH8):c.1475del (p.Phe492fs) rs781085472
NM_002472.3(MYH8):c.1966-1G>T rs561214803
NM_002472.3(MYH8):c.2128A>T (p.Lys710Ter) rs1060499731
NM_002472.3(MYH8):c.2746dup (p.Ile916fs) rs1555556193
NM_002472.3(MYH8):c.5623C>T (p.Gln1875Ter) rs1060499727

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