ClinVar Miner

List of variants reported as benign for branchiootic syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.*1581G>A rs9298163 0.97552
NM_005982.4(SIX1):c.*334C>G rs10144415 0.83338
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397 0.35033
NM_000503.6(EYA1):c.*1324T>C rs56115941 0.22152
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118 0.13734
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398 0.08547
NM_000503.6(EYA1):c.*800T>C rs74862574 0.07544
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404 0.05809
NM_005982.4(SIX1):c.*602G>C rs78909843 0.02638
NM_005982.4(SIX1):c.*404A>G rs76116881 0.02596
NM_000503.6(EYA1):c.-271G>A rs73684755 0.02116
NM_000503.6(EYA1):c.*1222A>C rs117394899 0.01315
NM_000503.6(EYA1):c.1699-3C>T rs117149407 0.01158
NM_000503.6(EYA1):c.*705G>T rs79700717 0.00975
NM_005982.4(SIX1):c.*1496C>T rs61993831 0.00969
NM_005982.4(SIX1):c.*297T>G rs147081368 0.00707
NM_005982.4(SIX1):c.-137C>T rs139621918 0.00654
NM_000503.6(EYA1):c.-191C>G rs55694100 0.00629
NM_000503.6(EYA1):c.*102T>G rs139109847 0.00616
NM_000503.6(EYA1):c.*1263C>T rs140308724 0.00454
NM_000503.6(EYA1):c.*353C>T rs151172668 0.00432
NM_000503.6(EYA1):c.*784T>C rs77243350 0.00322
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_005982.4(SIX1):c.-184A>C rs187402923 0.00127
NM_000503.6(EYA1):c.744G>A (p.Thr248=) rs10098224 0.00124
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_000503.6(EYA1):c.1199+13G>T rs200345478 0.00096
NM_000503.6(EYA1):c.*23G>A rs373876510 0.00086
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059 0.00069
NM_000503.6(EYA1):c.648G>A (p.Pro216=) rs148973681 0.00067
NM_005982.4(SIX1):c.*443A>G rs186530769 0.00053
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715 0.00032
NM_005982.4(SIX1):c.-14G>T rs374228886 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_005982.4(SIX1):c.*1079T>A rs559116477 0.00024
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_000503.6(EYA1):c.*104C>T rs545764396 0.00014
NM_000503.6(EYA1):c.887G>A (p.Arg296His) rs181191349 0.00014
NM_005982.4(SIX1):c.*1044G>T rs3742637 0.00014
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_005982.4(SIX1):c.180C>G (p.Arg60=) rs781519092 0.00011
NM_005982.4(SIX1):c.-121C>G rs375002099 0.00010
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
NM_005982.4(SIX1):c.-24C>T rs201700039 0.00005
NM_000503.6(EYA1):c.*1890A>G rs377092983 0.00003
NM_000503.6(EYA1):c.*556A>G rs553030149 0.00003
NM_000503.6(EYA1):c.724A>G (p.Ser242Gly) rs191838840 0.00002
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742 0.00001
NM_000503.6(EYA1):c.*1310G>A rs147323889
NM_000503.6(EYA1):c.-340G>T rs55997623
NM_000503.6(EYA1):c.1475+15G>A rs373917012
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1701C>T (p.His567=) rs763080811

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