ClinVar Miner

List of variants in gene MYLK reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 13
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HGVS dbSNP
NM_053025.4(MYLK):c.1170G>C (p.Gly390=) rs1553822363
NM_053025.4(MYLK):c.1340G>C (p.Trp447Ser) rs886043581
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174
NM_053025.4(MYLK):c.2643G>A (p.Gln881=) rs765727285
NM_053025.4(MYLK):c.3380_3382delinsGCC (p.Ala1127_Thr1128delinsGlyPro) rs886043880
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_053025.4(MYLK):c.570G>T (p.Pro190=) rs56377408
NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) rs794727880
NM_053025.4(MYLK):c.588+10C>T rs886038709
NM_053025.4(MYLK):c.830A>G (p.Asn277Ser)

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