ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00133
NM_000258.3(MYL3):c.*13+5G>C rs200422816 0.00011
NM_000258.3(MYL3):c.420C>T (p.Phe140=) rs201138698 0.00006
NM_000258.3(MYL3):c.246G>A (p.Ala82=) rs368364468 0.00004
NM_000258.3(MYL3):c.367A>G (p.Lys123Glu) rs536445081 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940 0.00003
NM_000258.3(MYL3):c.219C>T (p.Tyr73=) rs780500137 0.00002
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.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000258.3(MYL3):c.188G>A (p.Arg63His) rs139354105 0.00001
NM_000258.3(MYL3):c.222G>A (p.Gly74=) rs144543453 0.00001
NM_000258.3(MYL3):c.235G>A (p.Val79Ile) rs150634297 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000258.3(MYL3):c.78C>T (p.Pro26=) rs764784092 0.00001
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) 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.261C>T (p.Pro87=) rs556711370
NM_000258.3(MYL3):c.274G>A (p.Val92Met) rs770961856
NM_000258.3(MYL3):c.36T>C (p.Asp12=) rs138567316
NM_000258.3(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.3(MYL3):c.419T>G (p.Phe140Cys) rs1559520147
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
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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