ClinVar Miner

List of variants reported as likely pathogenic for branchiooculofacial syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
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.703G>A (p.Glu235Lys) rs1554111751
NM_001372066.1(TFAP2A):c.719T>C (p.Leu240Pro) rs1554111734
NM_001372066.1(TFAP2A):c.755G>A (p.Gly252Asp) rs1554111717
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln) rs151344530
NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro) rs1554110994

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