ClinVar Miner

List of variants in gene MYLK reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358 0.94358
NM_053025.4(MYLK):c.1804+8C>T rs820355 0.91605
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047 0.59203
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305 0.53400
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392 0.24353
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463 0.21770
NM_053025.4(MYLK):c.1651+6T>A rs820329 0.17955
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
NM_053025.4(MYLK):c.3652+11G>A rs41271437 0.03294
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941 0.02481
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01370
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490 0.00020
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_053025.4(MYLK):c.3448+15G>A rs199789942 0.00014
NM_053025.4(MYLK):c.2938dup (p.Asp980fs) rs1553803719
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.4289-10dup rs41431347

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