ClinVar Miner

List of variants reported as pathogenic for congenital heart disease by Embryology Laboratory, Victor Chang Cardiac Research Institute

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter) rs1555223259

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