ClinVar Miner

List of variants in gene MYLK reported as pathogenic

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Total variants: 8
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NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter) rs768134055
NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter) rs1382893400
NM_053025.4(MYLK):c.3838_3844dup (p.Glu1282fs) rs1553787823
NM_053025.4(MYLK):c.3985+5G>T rs1553787619
NM_053025.4(MYLK):c.4372C>T (p.Gln1458Ter) rs1553781304
NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter) rs387906782
NM_053025.4(MYLK):c.4459C>T (p.Arg1487Ter) rs886229659
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781

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