ClinVar Miner

List of variants in gene TFAP2B reported as benign for congenital anomaly of the great arteries

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_003221.3(TFAP2B):c.*4228G>T rs67092917
NM_003221.3(TFAP2B):c.-34G>A rs2272903
NM_003221.4(TFAP2B):c.*10A>T rs2857513
NM_003221.4(TFAP2B):c.*136T>A rs2982621
NM_003221.4(TFAP2B):c.*178C>T rs2857514
NM_003221.4(TFAP2B):c.*1790A>G rs9296643
NM_003221.4(TFAP2B):c.*1801G>A rs2817419
NM_003221.4(TFAP2B):c.*1879T>C rs55653665
NM_003221.4(TFAP2B):c.*1925G>T rs73427175
NM_003221.4(TFAP2B):c.*1950C>G rs61236902
NM_003221.4(TFAP2B):c.*2227T>C rs2817420
NM_003221.4(TFAP2B):c.*2624T>C rs62405437
NM_003221.4(TFAP2B):c.*2797del rs398048525
NM_003221.4(TFAP2B):c.*334A>G rs78688767
NM_003221.4(TFAP2B):c.*3522C>A rs13195969
NM_003221.4(TFAP2B):c.*3772C>A rs66462826
NM_003221.4(TFAP2B):c.*4124T>C rs7769978
NM_003221.4(TFAP2B):c.*4209T>A rs62405438
NM_003221.4(TFAP2B):c.*912_*913CA[6] rs35649205
NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu) rs13216733
NM_003221.4(TFAP2B):c.540+14A>G rs552393576
NM_003221.4(TFAP2B):c.540+7ACAA[5] rs368226832
NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala) rs2817394

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