ClinVar Miner

List of variants in gene EYA1 reported as uncertain significance for Otofaciocervical syndrome 1

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.*429T>C rs192602787 0.00165
NM_000503.6(EYA1):c.-173G>T rs886063091 0.00152
NM_000503.6(EYA1):c.*1672T>A rs777991930 0.00055
NM_000503.6(EYA1):c.*86C>A rs186838732 0.00055
NM_000503.6(EYA1):c.35G>A (p.Arg12His) rs74720958 0.00035
NM_000503.6(EYA1):c.*848G>A rs775498240 0.00023
NM_000503.6(EYA1):c.*1543T>G rs867228117 0.00022
NM_000503.6(EYA1):c.*117G>A rs886063087 0.00019
NM_000503.6(EYA1):c.*1275G>A rs192113669 0.00017
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000503.6(EYA1):c.*1284C>A rs867048052 0.00010
NM_000503.6(EYA1):c.*442G>A rs767388665 0.00010
NM_000503.6(EYA1):c.*1391G>A rs543035675 0.00006
NM_000503.6(EYA1):c.*1229G>A rs769460553 0.00004
NM_000503.6(EYA1):c.*1561A>G rs1042576113 0.00004
NM_000503.6(EYA1):c.*545C>T rs886063086 0.00004
NM_000503.6(EYA1):c.-188C>T rs1045608759 0.00003
NM_000503.6(EYA1):c.-49A>G rs773963094 0.00003
NM_000503.6(EYA1):c.*1529C>T rs779384590 0.00002
NM_000503.6(EYA1):c.*866C>T rs979538866 0.00002
NM_000503.6(EYA1):c.*1297A>G rs1806462036 0.00001
NM_000503.6(EYA1):c.*1598A>C rs886063084 0.00001
NM_000503.6(EYA1):c.*70G>A rs938004211 0.00001
NM_000503.6(EYA1):c.-429G>A rs886063094 0.00001
NM_000503.6(EYA1):c.-454G>A rs569684779 0.00001
NM_000503.6(EYA1):c.1509T>C (p.Thr503=) rs371495884 0.00001
NM_000503.6(EYA1):c.196G>T (p.Gly66Cys) rs886063089 0.00001
NM_000503.6(EYA1):c.378G>A (p.Thr126=) rs766288763 0.00001
NM_000503.6(EYA1):c.556+5G>C rs886063088 0.00001
NM_000503.6(EYA1):c.827-8T>A rs1240727448 0.00001
NM_000503.5(EYA1):c.-508A>G rs886063095
NM_000503.5(EYA1):c.-564_-563delAG rs886063096
NM_000503.5(EYA1):c.-588_-587delAA rs35320129
NM_000503.5(EYA1):c.-588_-587dup rs35320129
NM_000503.5(EYA1):c.-589C>A rs886063099
NM_000503.5(EYA1):c.-590C>A rs886063100
NM_000503.6(EYA1):c.*1126T>C rs1806487217
NM_000503.6(EYA1):c.*1135_*1138dup rs886063085
NM_000503.6(EYA1):c.*1372_*1375dup rs142792208
NM_000503.6(EYA1):c.*451C>T rs1806581730
NM_000503.6(EYA1):c.*755A>T rs1806536881
NM_000503.6(EYA1):c.*770_*773dup rs371488223
NM_000503.6(EYA1):c.*901dup rs570995924
NM_000503.6(EYA1):c.-155G>A rs886063090
NM_000503.6(EYA1):c.-192G>A rs886063092
NM_000503.6(EYA1):c.-242T>G rs886063093
NM_000503.6(EYA1):c.-263C>T rs146081509
NM_000503.6(EYA1):c.-326G>T rs551597748
NM_000503.6(EYA1):c.-340G>C rs55997623
NM_000503.6(EYA1):c.-75G>C rs558296770
NM_000503.6(EYA1):c.1258T>C (p.Leu420=) rs200074362
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe) rs1374801818
NM_000503.6(EYA1):c.1698+14G>A rs373281401
NM_000503.6(EYA1):c.203-15G>T rs772006212
NM_000503.6(EYA1):c.203C>G (p.Ala68Gly) rs1822657436
NM_000503.6(EYA1):c.9G>A (p.Met3Ile) rs1826704843

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