ClinVar Miner

List of variants reported as pathogenic for congenital anomaly of the great arteries by Centre of Medical Genetics, University of Antwerp

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) rs900988907
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala) rs768542939
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly) rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) rs1419095990
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) rs1567092020
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071

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