List of variants in gene MYLK reported as 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: 31

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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.3253A>G (p.Thr1085Ala)	rs75370906	0.06202
NM_053025.4(MYLK):c.411C>G (p.Ser137=)	rs55760507	0.03602
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.2101G>A (p.Ala701Thr)	rs142835596	0.00637
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu)	rs9844788	0.00558
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)	rs56056823	0.00499
NM_053025.4(MYLK):c.652C>T (p.Leu218=)	rs113035707	0.00441
NM_053025.4(MYLK):c.4620-6C>T	rs113607507	0.00195
NM_053025.4(MYLK):c.399G>T (p.Gln133His)	rs140148380	0.00167
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)	rs35912339	0.00106
NM_053025.4(MYLK):c.3832-6C>T	rs185681684	0.00088
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)	rs149530842	0.00055
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)	rs200273207	0.00041
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=)	rs138423692	0.00036
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=)	rs56262958	0.00032
NM_053025.4(MYLK):c.711C>T (p.Asn237=)	rs149407805	0.00031
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.2023G>A (p.Gly675Arg)	rs147008323	0.00015
NM_053025.4(MYLK):c.207C>T (p.Asn69=)	rs376457425	0.00014
NM_053025.4(MYLK):c.3639G>A (p.Val1213=)	rs148419939	0.00014
NM_053025.4(MYLK):c.5238+6G>A	rs769544580	0.00007
NM_053025.4(MYLK):c.601C>T (p.Leu201=)	rs773082759	0.00007
NM_053025.4(MYLK):c.2388C>T (p.Leu796=)	rs193007255	0.00001
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)	rs138172035
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del)	rs75967604
NM_053025.4(MYLK):c.4289-9C>G	rs41443051
NM_053025.4(MYLK):c.588+13_588+16del	rs570821069

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