List of variants reported as pathogenic for branchiootorenal syndrome 1 by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NG_011735.4:g.308479_308480insAlu308464_308481dup
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)	rs121909202
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.1514T>G (p.Leu505Arg)	rs121909201
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs)	rs606231355
NM_000503.6(EYA1):c.489dup (p.Leu164fs)
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	rs121909195
NM_000503.6(EYA1):c.966+5G>A	rs606231357

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