ClinVar Miner

List of variants in gene MYLK reported as likely benign by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.4(MYLK):c.1392T>C (p.Tyr464=)
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) rs141049942
NM_053025.4(MYLK):c.2079C>T (p.Tyr693=)
NM_053025.4(MYLK):c.2103T>C (p.Ala701=)
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr)
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.4(MYLK):c.2331C>T (p.Phe777=)
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409
NM_053025.4(MYLK):c.2670G>A (p.Gln890=)
NM_053025.4(MYLK):c.3132C>T (p.Ala1044=) rs58176285
NM_053025.4(MYLK):c.3972C>T (p.Asn1324=)
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751
NM_053025.4(MYLK):c.4602C>T (p.Ile1534=) rs578009736
NM_053025.4(MYLK):c.4746G>A (p.Val1582=) rs1560002061
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) rs111256888
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) rs144436556

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