ClinVar Miner

List of variants in gene TFAP2A studied for branchiooculofacial syndrome

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001372066.1(TFAP2A):c.1032-44T>A rs303048 0.31435
NM_001372066.1(TFAP2A):c.889+73T>C rs113027487 0.01394
NM_001372066.1(TFAP2A):c.826T>C (p.Leu276=) rs35008125 0.00674
NM_001372066.1(TFAP2A):c.426C>T (p.Leu142=) rs369051842 0.00067
NM_001372066.1(TFAP2A):c.924C>T (p.Tyr308=) rs141711078 0.00046
NM_001372066.1(TFAP2A):c.141G>A (p.Leu47=) rs149126243 0.00039
NM_001372066.1(TFAP2A):c.257C>T (p.Pro86Leu) rs200131527 0.00018
NM_001372066.1(TFAP2A):c.1215C>T (p.Thr405=) rs201494266 0.00008
NM_001372066.1(TFAP2A):c.51+20G>T rs369679945 0.00006
NM_001372066.1(TFAP2A):c.474C>G (p.Ile158Met) rs1295010353 0.00005
NM_001372066.1(TFAP2A):c.103A>G (p.Thr35Ala) rs9368354 0.00002
NC_000006.12:g.(?_10398710)_(10415642_?)del
NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg) rs1761890567
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs) rs1554110735
NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp) rs1554110673
NM_001372066.1(TFAP2A):c.220C>A (p.Pro74Thr)
NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs) rs1554112492
NM_001372066.1(TFAP2A):c.481del (p.Val161fs)
NM_001372066.1(TFAP2A):c.486+1G>T
NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln) rs1581265556
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.820A>G (p.Ile274Val) rs1762050441
NM_001372066.1(TFAP2A):c.832_848delinsAGGAT (p.Leu278_Arg283delinsArgIle)
NM_001372066.1(TFAP2A):c.835_836del (p.Pro279fs)
NM_001372066.1(TFAP2A):c.860A>G (p.Asn287Ser) rs1021266565
NM_001372066.1(TFAP2A):c.889+2dup rs1762047599
NM_001372066.1(TFAP2A):c.892G>A (p.Glu298Lys) rs267607108
NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro) rs1554110994
NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter) rs1757903817

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