List of variants in gene MYLK reported as likely pathogenic for aortic aneurysm, familial thoracic 7

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala)	rs763880352	0.00006
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter)	rs778050996	0.00002
NM_053025.4(MYLK):c.4619+2T>G	rs1553780501	0.00001
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter)	rs545515041	0.00001
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.3565+1G>C
NM_053025.4(MYLK):c.3566-2A>G
NM_053025.4(MYLK):c.3832-2A>G	rs2059661877
NM_053025.4(MYLK):c.4415+1G>A	rs1430822242
NM_053025.4(MYLK):c.4620-2A>G	rs2108112355
NM_053025.4(MYLK):c.4763C>T (p.Pro1588Leu)	rs1576401641

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