ClinVar Miner

List of variants in gene EYA1 reported as likely pathogenic

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser) rs1563630587 0.00001
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773 0.00001
GRCh37/hg19 8q13.3(chr8:71816154-72197709)x1
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000503.6(EYA1):c.1051-5T>G rs2128904621
NM_000503.6(EYA1):c.1051G>T (p.Asp351Tyr) rs2128904607
NM_000503.6(EYA1):c.1189C>T (p.Gln397Ter) rs2128854635
NM_000503.6(EYA1):c.1195dup (p.Leu399fs) rs1585820240
NM_000503.6(EYA1):c.1199+2T>A rs2128854556
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1361-1G>A rs397517917
NM_000503.6(EYA1):c.1361-2A>G rs2128851194
NM_000503.6(EYA1):c.1381_1387dup (p.Ala463fs) rs2128851100
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter) rs1475718221
NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro)
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter) rs139717960
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln) rs2128850745
NM_000503.6(EYA1):c.1537C>A (p.Leu513Met) rs1809062554
NM_000503.6(EYA1):c.1570G>T (p.Glu524Ter)
NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn) rs397517918
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.1650_1651dup (p.Tyr551fs) rs2128835296
NM_000503.6(EYA1):c.1698+2T>C
NM_000503.6(EYA1):c.1714dup (p.Trp572fs) rs1064795739
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.202+1G>A rs753245290
NM_000503.6(EYA1):c.202_203insTTAC (p.Ala68fs)
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.637C>T (p.Gln213Ter) rs2129000663
NM_000503.6(EYA1):c.639+3A>C
NM_000503.6(EYA1):c.640-15_698del rs1554541834
NM_000503.6(EYA1):c.640G>A (p.Asp214Asn) rs1563422500
NM_000503.6(EYA1):c.682_686dup (p.Tyr230fs) rs2128999992
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) rs1586244371
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter) rs2128999627
NM_000503.6(EYA1):c.826+1G>A
NM_000503.6(EYA1):c.966+1G>C rs2128951565
NM_000503.6(EYA1):c.966+5G>C rs606231357
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg) rs2128948223

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