ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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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.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

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