ClinVar Miner

List of variants reported as benign for Branchiootic syndrome 1

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.*1581G>A rs9298163 0.97552
NM_000503.6(EYA1):c.639+39T>G rs3779747 0.39091
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397 0.35033
NM_000503.6(EYA1):c.1699-23A>G rs10090382 0.34966
NM_000503.6(EYA1):c.1476-21G>T rs3735935 0.30839
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_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_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_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_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059 0.00069
NM_000503.6(EYA1):c.648G>A (p.Pro216=) rs148973681 0.00067
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
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_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
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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