List of variants in gene MYLK reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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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.3402C>T (p.Asn1134=)	rs865358	0.94358
NM_053025.4(MYLK):c.1804+8C>T	rs820355	0.91605
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser)	rs9840993	0.88650
NM_053025.4(MYLK):c.1005C>T (p.Thr335=)	rs4678047	0.59203
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=)	rs40305	0.53400
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)	rs201332554	0.00012
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr)	rs758715543	0.00007
NM_053025.4(MYLK):c.2183G>A (p.Arg728His)	rs370154845	0.00004
NM_053025.4(MYLK):c.493del (p.Thr165fs)	rs748806035	0.00001

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