ClinVar Miner

List of variants in gene MYLK reported as uncertain significance by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_053025.4(MYLK):c.2626C>A (p.Arg876Ser) rs369503342
NM_053025.4(MYLK):c.3910C>A (p.His1304Asn) rs758161864
NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn) rs139045748

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