ClinVar Miner

List of variants reported as uncertain significance for Branchiootorenal Spectrum Disorders

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000503.5(EYA1):c.-508A>G rs886063095
NM_000503.5(EYA1):c.-564_-563delAG rs886063096
NM_000503.5(EYA1):c.-588_-587delAA rs35320129
NM_000503.5(EYA1):c.-588_-587dup rs35320129
NM_000503.5(EYA1):c.-589C>A rs886063099
NM_000503.5(EYA1):c.-590C>A rs886063100
NM_000503.6(EYA1):c.*1135_*1138dup rs886063085
NM_000503.6(EYA1):c.*1372_*1375dup rs142792208
NM_000503.6(EYA1):c.*770_*773dup rs371488223
NM_000503.6(EYA1):c.*901dup rs570995924
NM_005982.4(SIX1):c.*1268AT[1] rs3832952
NM_005982.4(SIX1):c.*1571T>C rs886050567
NM_005982.4(SIX1):c.*268CAAA[2] rs886050570
NM_005982.4(SIX1):c.*765_*766del rs33943216

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