ClinVar Miner

List of variants studied for branchiooculofacial syndrome

Included ClinVar conditions (1):
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Total variants: 60
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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.579C>T (p.Ser193=) rs143363077 0.00073
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.714G>A (p.Arg238=) rs761298686 0.00006
NM_001372066.1(TFAP2A):c.474C>G (p.Ile158Met) rs1295010353 0.00005
NM_001372066.1(TFAP2A):c.539-19C>T rs375564449 0.00004
NM_001372066.1(TFAP2A):c.103A>G (p.Thr35Ala) rs9368354 0.00002
NC_000006.12:g.(?_10398710)_(10415642_?)del
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.966+1G>C rs2128951565
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.1203G>C (p.Gln401His)
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.581C>T (p.Ala194Val) rs2114014890
NM_001372066.1(TFAP2A):c.639C>G (p.Phe213Leu)
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.660C>T (p.Leu220=) rs369302647
NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter) rs2114014460
NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys) rs1554111751
NM_001372066.1(TFAP2A):c.703_714del (p.Glu235_Arg238del)
NM_001372066.1(TFAP2A):c.712C>T (p.Arg238Trp) rs1554111749
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.719T>C (p.Leu240Pro) rs1554111734
NM_001372066.1(TFAP2A):c.730G>A (p.Glu244Lys) rs151344526
NM_001372066.1(TFAP2A):c.739A>G (p.Asn247Asp) rs2114014223
NM_001372066.1(TFAP2A):c.742G>A (p.Ala248Thr)
NM_001372066.1(TFAP2A):c.747G>A (p.Ser249=) rs1372051364
NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro) rs1581262652
NM_001372066.1(TFAP2A):c.754G>T (p.Gly252Cys)
NM_001372066.1(TFAP2A):c.755G>A (p.Gly252Asp) rs1554111717
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu) rs151344527
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.767G>A (p.Arg256Gln) rs151344530
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.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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