ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP
NM_053025.3(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.3(MYLK):c.1170G>C (p.Gly390=) rs1553822363
NM_053025.3(MYLK):c.1327C>T (p.Pro443Ser) rs35156360
NM_053025.3(MYLK):c.1340G>C (p.Trp447Ser) rs886043581
NM_053025.3(MYLK):c.2120A>G (p.Gln707Arg) rs201615936
NM_053025.3(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.3(MYLK):c.257G>A (p.Arg86Gln) rs138265409
NM_053025.3(MYLK):c.2628C>T (p.Arg876=) rs571744275
NM_053025.3(MYLK):c.2629G>A (p.Val877Met) rs34542174
NM_053025.3(MYLK):c.2643G>A (p.Gln881=) rs765727285
NM_053025.3(MYLK):c.3027G>A (p.Glu1009=) rs12172926
NM_053025.3(MYLK):c.3196_3198delGAA (p.Glu1066del) rs75967604
NM_053025.3(MYLK):c.3380_3382delCCAinsGCC (p.Ala1127_Thr1128delinsGlyPro) rs886043880
NM_053025.3(MYLK):c.3402C>T (p.Asn1134=) rs865358
NM_053025.3(MYLK):c.383C>T (p.Ala128Val) rs143896146
NM_053025.3(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.3(MYLK):c.4289-4C>G rs376670657
NM_053025.3(MYLK):c.4289-4_4289-3dup rs41431347
NM_053025.3(MYLK):c.4317T>C (p.Asp1439=) rs1254392
NM_053025.3(MYLK):c.439C>T (p.Pro147Ser) rs9840993
NM_053025.3(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_053025.3(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_053025.3(MYLK):c.570G>T (p.Pro190=) rs56377408
NM_053025.3(MYLK):c.571C>G (p.Gln191Glu) rs794727880
NM_053025.3(MYLK):c.588+10C>T rs886038709
NM_053025.3(MYLK):c.830A>G (p.Asn277Ser)
NM_053025.3(MYLK):c.984G>A (p.Ser328=) rs115018449

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