ClinVar Miner

List of variants in gene EYA1 reported as likely pathogenic for branchio-oto-renal syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773 0.00001
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000503.6(EYA1):c.1199+2T>A rs2128854556
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
NM_000503.6(EYA1):c.1361-1G>A rs397517917
NM_000503.6(EYA1):c.1361-2A>G rs2128851194
NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro)
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter) rs139717960
NM_000503.6(EYA1):c.1597+1G>A rs1563630117
NM_000503.6(EYA1):c.1597+1G>T
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) rs1060499603
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg) rs1585717154
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.419-2A>G
NM_000503.6(EYA1):c.520C>T (p.Gln174Ter)
NM_000503.6(EYA1):c.557-1G>A
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) rs1586244371
NM_000503.6(EYA1):c.826+1G>A
NM_000503.6(EYA1):c.966+1G>C rs2128951565
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg) rs2128948223

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