ClinVar Miner

List of variants in gene EYA1 studied for Branchiootorenal syndrome 1

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Total variants: 46
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HGVS dbSNP gnomAD frequency
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.813A>G (p.Thr271=) rs1445398 0.08547
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219 0.00023
NM_000503.6(EYA1):c.671G>T (p.Gly224Val) rs201509408 0.00006
NM_000503.6(EYA1):c.1455A>C (p.Ala485=) rs200008207 0.00003
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val) rs754901033 0.00002
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000503.6(EYA1):c.340T>C (p.Phe114Leu) rs772521196 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NC_000008.11:g.(?_71244583)_(71244712_?)del
NC_000008.11:g.(?_71269720)_(71269843_?)del
NC_000008.11:g.(?_71269720)_(71271917_?)del
NG_011735.4:g.308479_308480insAlu308464_308481dup
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000503.6(EYA1):c.1051-5T>G rs2128904621
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1259del (p.Leu420fs) rs1809266780
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1325A>G (p.Lys442Arg) rs2128853814
NM_000503.6(EYA1):c.1350delinsCC (p.Asn451fs)
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) rs121909200
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.1514T>G (p.Leu505Arg) rs121909201
NM_000503.6(EYA1):c.1574A>T (p.Asn525Ile)
NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter)
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) rs606231355
NM_000503.6(EYA1):c.1698+1G>T rs530147851
NM_000503.6(EYA1):c.1719G>T (p.Arg573Ser)
NM_000503.6(EYA1):c.489dup (p.Leu164fs)
NM_000503.6(EYA1):c.520C>T (p.Gln174Ter)
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter) rs529483320
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) rs1563422304
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) rs1586244371
NM_000503.6(EYA1):c.76G>A (p.Gly26Ser)
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter) rs2128999627
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) rs1816578250
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.929del (p.Asn310fs) rs1816566795
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg) rs2128948223
NM_000503.6(EYA1):c.981G>A (p.Trp327Ter)
NM_000503.6(EYA1):c.988G>T (p.Asp330Tyr) rs1586100993

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