ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP
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.4001dup (p.Ala1335fs) rs1553785222
NM_053025.4(MYLK):c.4415+1G>A rs1430822242
NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs) rs1060502531
NM_053025.4(MYLK):c.4619+2T>G rs1553780501
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996

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