ClinVar Miner

List of variants reported as uncertain significance for Branchiootorenal Spectrum Disorders by Illumina Clinical Services Laboratory,Illumina

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Total variants: 14
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HGVS dbSNP
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.*1268_*1269AT[1] rs3832952
NM_005982.4(SIX1):c.*1571T>C rs886050567
NM_005982.4(SIX1):c.*268_*271CAAA[2] rs886050570
NM_005982.4(SIX1):c.*765_*766del rs33943216
NM_172059.5(EYA1):c.34-5589A>G rs886063095
NM_172059.5(EYA1):c.34-5644_34-5643del rs886063096
NM_172059.5(EYA1):c.34-5646_34-5645del rs35320129
NM_172059.5(EYA1):c.34-5646_34-5645dup rs35320129
NM_172059.5(EYA1):c.34-5670C>A rs886063099
NM_172059.5(EYA1):c.34-5671C>A rs886063100

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