ClinVar Miner

List of variants in gene MYLK reported as likely pathogenic

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Total variants: 11
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HGVS dbSNP
GRCh37/hg19 3q21.1(chr3:123563319-123618911)x0
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.4(MYLK):c.2390+2T>C rs1553808296
NM_053025.4(MYLK):c.3832-2A>G
NM_053025.4(MYLK):c.4415+1G>A rs1430822242
NM_053025.4(MYLK):c.4619+2T>G rs1553780501
NM_053025.4(MYLK):c.4763C>T (p.Pro1588Leu) rs1576401641
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149

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