ClinVar Miner

List of variants reported as likely pathogenic for Branchiooculofacial syndrome

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Total variants: 17
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HGVS dbSNP
NC_000006.12:g.(?_10398710)_(10415642_?)del
NM_001032280.3(TFAP2A):c.1296A>G (p.Ter432Trp) rs1554110673
NM_001032280.3(TFAP2A):c.383_389dup (p.Pro131fs) rs1554112492
NM_001032280.3(TFAP2A):c.679G>A (p.Glu227Lys) rs1554111751
NM_001032280.3(TFAP2A):c.688C>T (p.Arg230Trp) rs1554111749
NM_001032280.3(TFAP2A):c.695T>C (p.Leu232Pro) rs1554111734
NM_001032280.3(TFAP2A):c.731G>A (p.Gly244Asp) rs1554111717
NM_001032280.3(TFAP2A):c.742C>T (p.Arg248Trp) rs151344528
NM_001032280.3(TFAP2A):c.743G>A (p.Arg248Gln) rs151344530
NM_001032280.3(TFAP2A):c.749C>T (p.Ala250Val) rs151344531
NM_001032280.3(TFAP2A):c.871G>C (p.Ala291Pro) rs1554110994
NM_001042425.2(TFAP2A):c.751A>G (p.Arg251Gly) rs121909574
NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg)
NM_001372066.1(TFAP2A):c.730G>A (p.Glu244Lys)
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu) rs151344527
NM_001372066.1(TFAP2A):c.889+2dup
NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter)

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