ClinVar Miner

List of variants in gene EYA1 reported as pathogenic by OMIM

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NG_011735.4:g.308479_308480insAlu308464_308481dup
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1087G>A (p.Glu363Lys) rs121909198
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1350delinsCC (p.Asn451fs)
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) rs121909200
NM_000503.6(EYA1):c.1501_1507del (p.Thr501fs) rs606231356
NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg) rs121909201
NM_000503.6(EYA1):c.1639A>G (p.Arg547Gly) rs121909197
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) rs606231355
NM_000503.6(EYA1):c.398_405del (p.Pro133fs)
NM_000503.6(EYA1):c.489dup (p.Leu164fs)
NM_000503.6(EYA1):c.639+1G>A rs869025180
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_000503.6(EYA1):c.972_973dup (p.Phe325fs)

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