ClinVar Miner

List of variants reported as likely benign for Branchiootorenal Spectrum Disorders

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005982.4(SIX1):c.-255G>T rs79926530 0.01127
NM_000503.5(EYA1):c.*1914T>G rs112480709 0.00323
NM_000503.6(EYA1):c.*1217TTA[1] rs574723016
NM_000503.6(EYA1):c.*1561ATCA[3] rs553875263
NM_005982.4(SIX1):c.*1008del rs148821608
NM_005982.4(SIX1):c.*578_*581del rs556041829
NM_005982.4(SIX1):c.*883CTAGTTT[1] rs561797428

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