ClinVar Miner

List of variants reported as likely 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: 6
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser) rs886037906
NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser) rs199472953
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp) rs886037905

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