ClinVar Miner

List of variants in gene MYL3 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000258.3(MYL3):c.188G>A (p.Arg63His) rs139354105 0.00001
NM_000258.3(MYL3):c.235G>A (p.Val79Ile) rs150634297 0.00001
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.184G>A (p.Asp62Asn) rs730880954
NM_000258.3(MYL3):c.214A>G (p.Thr72Ala)
NM_000258.3(MYL3):c.274G>A (p.Val92Met) rs770961856
NM_000258.3(MYL3):c.419T>G (p.Phe140Cys) rs1559520147
NM_000258.3(MYL3):c.520G>C (p.Ala174Pro) rs397516279
NM_000258.3(MYL3):c.539A>G (p.Asn180Ser) rs1575497410
NM_000258.3(MYL3):c.8C>A (p.Pro3His) rs536404643

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