ClinVar Miner

List of variants in gene EYA1 reported as uncertain significance by GeneDx

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000503.6(EYA1):c.419-10A>G rs371502049 0.00004
NM_000503.6(EYA1):c.175G>A (p.Gly59Arg) rs146216506 0.00003
NM_000503.6(EYA1):c.287A>G (p.His96Arg) rs377434964 0.00002
NM_000503.6(EYA1):c.34C>T (p.Arg12Cys) rs530921368 0.00002
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000503.6(EYA1):c.1454C>T (p.Ala485Val) rs778970223 0.00001
NM_000503.6(EYA1):c.1621A>G (p.Ile541Val) rs753553594 0.00001
NM_000503.6(EYA1):c.163A>G (p.Thr55Ala) rs139194909 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.701C>T (p.Pro234Leu) rs761632944 0.00001
NM_000503.6(EYA1):c.1046G>T (p.Gly349Val) rs2128948109
NM_000503.6(EYA1):c.1053T>G (p.Asp351Glu)
NM_000503.6(EYA1):c.1140+4_1140+7del rs1554605968
NM_000503.6(EYA1):c.1145G>A (p.Cys382Tyr)
NM_000503.6(EYA1):c.1157A>T (p.His386Leu) rs2128854710
NM_000503.6(EYA1):c.1310G>A (p.Arg437His)
NM_000503.6(EYA1):c.1468C>G (p.His490Asp) rs748575456
NM_000503.6(EYA1):c.1543T>C (p.Tyr515His) rs2128850056
NM_000503.6(EYA1):c.1598-32_1598-8del
NM_000503.6(EYA1):c.1697A>G (p.Lys566Arg)
NM_000503.6(EYA1):c.197G>T (p.Gly66Val)
NM_000503.6(EYA1):c.201A>G (p.Ser67=) rs2129046974
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala) rs1554550645
NM_000503.6(EYA1):c.296C>T (p.Pro99Leu)
NM_000503.6(EYA1):c.299C>T (p.Thr100Ile)
NM_000503.6(EYA1):c.300C>T (p.Thr100=) rs1378359746
NM_000503.6(EYA1):c.524C>T (p.Pro175Leu) rs201908026
NM_000503.6(EYA1):c.579A>G (p.Ser193=) rs945935998
NM_000503.6(EYA1):c.684G>A (p.Gln228=)
NM_000503.6(EYA1):c.758A>G (p.Asn253Ser) rs960785529
NM_000503.6(EYA1):c.811A>T (p.Thr271Ser)
NM_000503.6(EYA1):c.900T>C (p.Asp300=) rs762588398
NM_000503.6(EYA1):c.966+5G>T
NM_000503.6(EYA1):c.971T>C (p.Val324Ala)

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