List of variants in gene MYLK reported as likely benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg)	rs111256888	0.00440
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)	rs41366751	0.00406
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly)	rs77323602	0.00404
NM_053025.4(MYLK):c.24C>G (p.Ala8=)	rs78118111	0.00229
NM_053025.4(MYLK):c.999G>A (p.Pro333=)	rs13319347	0.00045
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)	rs368822172	0.00032
NM_053025.4(MYLK):c.2253C>T (p.Thr751=)	rs138777049	0.00025
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=)	rs144436556	0.00022
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)	rs138265409	0.00019
NM_053025.4(MYLK):c.2919G>A (p.Pro973=)	rs149482336	0.00014
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=)	rs146320279	0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)	rs371602931	0.00014
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)	rs201332554	0.00012
NM_053025.4(MYLK):c.2589G>A (p.Glu863=)	rs536506601	0.00009
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=)	rs370194660	0.00009
NM_053025.4(MYLK):c.2070G>A (p.Thr690=)	rs141049942	0.00007
NM_053025.4(MYLK):c.3132C>T (p.Ala1044=)	rs58176285	0.00007
NM_053025.4(MYLK):c.3831+10G>A	rs763161470	0.00005
NM_053025.4(MYLK):c.1392T>C (p.Tyr464=)	rs142740353	0.00004
NM_053025.4(MYLK):c.2652G>A (p.Glu884=)	rs1314650520	0.00004
NM_053025.4(MYLK):c.3000C>T (p.Ala1000=)	rs141546581	0.00004
NM_053025.4(MYLK):c.2076G>A (p.Thr692=)	rs147295583	0.00003
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=)	rs371814184	0.00003
NM_053025.4(MYLK):c.609G>A (p.Pro203=)	rs748312013	0.00003
NM_053025.4(MYLK):c.1839G>T (p.Leu613=)	rs771131171	0.00001
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr)	rs145191000	0.00001
NM_053025.4(MYLK):c.2328G>A (p.Val776=)	rs1057524371	0.00001
NM_053025.4(MYLK):c.2331C>T (p.Phe777=)	rs747392280	0.00001
NM_053025.4(MYLK):c.2670G>A (p.Gln890=)	rs749153170	0.00001
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=)	rs563116446	0.00001
NM_053025.4(MYLK):c.570G>A (p.Pro190=)	rs56377408	0.00001
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser)	rs201835018	0.00001
NM_053025.4(MYLK):c.1143C>A (p.Thr381=)	rs775410725
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del)	rs771815695
NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr)	rs35156360
NM_053025.4(MYLK):c.2079C>T (p.Tyr693=)	rs774049321
NM_053025.4(MYLK):c.2103T>C (p.Ala701=)	rs765840432
NM_053025.4(MYLK):c.3684C>T (p.Pro1228=)
NM_053025.4(MYLK):c.3972C>T (p.Asn1324=)	rs2059656603
NM_053025.4(MYLK):c.4131G>A (p.Thr1377=)	rs756697460
NM_053025.4(MYLK):c.4602C>T (p.Ile1534=)	rs578009736
NM_053025.4(MYLK):c.4746G>A (p.Val1582=)	rs1560002061

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