ClinVar Miner

List of variants reported as uncertain significance for aortic aneurysm, familial thoracic 7 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) rs537224715 0.00006
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu) rs761639849 0.00003
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) rs750002545 0.00003
NM_053025.4(MYLK):c.4744G>A (p.Val1582Met) rs755510742 0.00003
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys) rs766824318 0.00001
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.3832-8G>C rs202218458
NM_053025.4(MYLK):c.4457C>T (p.Thr1486Ile)
NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg) rs374662467

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