List of variants in gene TFAP2A reported as likely pathogenic for branchiooculofacial syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000006.12:g.(?_10398710)_(10415642_?)del
NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg)	rs1761890567
NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp)	rs1554110673
NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs)	rs1554112492
NM_001372066.1(TFAP2A):c.486+1G>T
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)	rs151344531
NM_001372066.1(TFAP2A):c.889+2dup	rs1762047599
NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro)	rs1554110994
NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter)	rs1757903817

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