ClinVar Miner

List of variants in gene MYLK reported as likely pathogenic by Centre for Genomic and Experimental Medicine,University of Edinburgh

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_053025.3(MYLK):c.2390+2T>C rs1553808296
NM_053025.3(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781

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