ClinVar Miner

List of variants reported as pathogenic for congenital anomaly of cardiovascular system by Center for Medical Genetics Ghent, University of Ghent

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_004387.4(NKX2-5):c.768T>G (p.Tyr256Ter) rs104893907

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