ClinVar Miner

List of variants reported as pathogenic for congenital anomaly of cardiovascular system by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_147191.1(MMP21):c.643G>A (p.Glu215Lys) rs145789868 0.00014
NC_000023.10:g.36649710_136649711del100000002insG
NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter) rs1569345504
NM_003413.4(ZIC3):c.593_609del (p.Pro198fs) rs1569345742
NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) rs104894960
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter) rs1203069392
NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser) rs122463167

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