ClinVar Miner

List of variants in gene MYL3 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 13
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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.129+54_129+55del rs544241793 0.00277
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.307+15C>T rs184025552 0.00036
NM_000258.3(MYL3):c.482-17C>T rs201289145 0.00030
NM_000258.3(MYL3):c.476C>T (p.Thr159Met) rs748832105 0.00004
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) rs565312070 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000258.3(MYL3):c.10A>C (p.Lys4Gln) rs1404760917 0.00001
NM_000258.3(MYL3):c.247C>T (p.Leu83=) rs1246506798 0.00001
NM_000258.3(MYL3):c.482-18G>A rs1055139411 0.00001
NM_000258.3(MYL3):c.158-4del rs776431941

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