ClinVar Miner

List of variants in gene MYL3 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000258.3(MYL3):c.69C>T (p.Pro23=) rs2233264 0.02058
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00133
NM_000258.3(MYL3):c.559+6C>T rs199474709 0.00077
NM_000258.3(MYL3):c.482-14C>A rs201780962 0.00048
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) rs148310342 0.00012
NM_000258.3(MYL3):c.516G>A (p.Leu172=) rs367761724 0.00008
NM_000258.3(MYL3):c.*9C>T rs202234617 0.00006
NM_000258.3(MYL3):c.420C>T (p.Phe140=) rs201138698 0.00006
NM_000258.3(MYL3):c.*5C>T rs727505197 0.00004
NM_000258.3(MYL3):c.246G>A (p.Ala82=) rs368364468 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys) rs377026344 0.00003
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940 0.00003
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) rs565312070 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.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000258.3(MYL3):c.517A>G (p.Met173Val) rs199474708 0.00001
NM_000258.3(MYL3):c.82G>A (p.Glu28Lys) rs754220375 0.00001
NM_000258.3(MYL3):c.11A>G (p.Lys4Arg) rs727503301
NM_000258.3(MYL3):c.165G>A (p.Lys55=) rs397516277
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.338C>T (p.Thr113Ile) rs397516278
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423
NM_000258.3(MYL3):c.452C>T (p.Ala151Val) rs876657895
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000258.3(MYL3):c.477G>T (p.Thr159=) rs148365503
NM_000258.3(MYL3):c.482-1G>A rs727503300
NM_000258.3(MYL3):c.520G>C (p.Ala174Pro) rs397516279
NM_000258.3(MYL3):c.9C>G (p.Pro3=) rs397516280

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