List of variants reported as pathogenic for branchiooculofacial syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001372066.1(TFAP2A):c.889+73T>C	rs113027487	0.01394
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	rs121909196
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)	rs1554110735
NM_001372066.1(TFAP2A):c.481del (p.Val161fs)
NM_001372066.1(TFAP2A):c.647T>A (p.Val216Asp)	rs793888541
NM_001372066.1(TFAP2A):c.655C>A (p.Arg219Ser)	rs793888540
NM_001372066.1(TFAP2A):c.703_714del (p.Glu235_Arg238del)
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln)	rs151344525
NM_001372066.1(TFAP2A):c.716G>C (p.Arg239Pro)	rs151344525
NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro)	rs1581262652
NM_001372066.1(TFAP2A):c.766C>G (p.Arg256Gly)	rs151344528
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp)	rs151344528
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)	rs121909574
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)	rs151344531
NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu)	rs121909575
NM_001372066.1(TFAP2A):c.832_848delinsAGGAT (p.Leu278_Arg283delinsArgIle)
NM_001372066.1(TFAP2A):c.835_836del (p.Pro279fs)
NM_001372066.1(TFAP2A):c.892G>A (p.Glu298Lys)	rs267607108

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