ClinVar Miner

List of variants reported as pathogenic for aortic valve disease 1 by Centre of Medical Genetics, University of Antwerp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) rs1567092020

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