ClinVar Miner

List of variants in gene MYLK reported as uncertain significance for Connective tissue disorder

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Total variants: 10
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HGVS dbSNP
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser)
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) rs1200981327
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr) rs756451726
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys) rs1406608470
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050
NM_053025.4(MYLK):c.4620-5C>T rs760680632
NM_053025.4(MYLK):c.5369-10T>G rs373584324
NM_053025.4(MYLK):c.5435C>T (p.Ser1812Phe) rs1007504430
NM_053025.4(MYLK):c.774-15C>G rs371552521

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