ClinVar Miner

List of variants in gene TFAP2A reported as uncertain significance for branchiooculofacial syndrome

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001372066.1(TFAP2A):c.257C>T (p.Pro86Leu) rs200131527 0.00018
NM_001372066.1(TFAP2A):c.474C>G (p.Ile158Met) rs1295010353 0.00005
NM_001372066.1(TFAP2A):c.103A>G (p.Thr35Ala) rs9368354 0.00002
NM_001372066.1(TFAP2A):c.220C>A (p.Pro74Thr)
NM_001372066.1(TFAP2A):c.820A>G (p.Ile274Val) rs1762050441
NM_001372066.1(TFAP2A):c.860A>G (p.Asn287Ser) rs1021266565

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