ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 8 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.1049+2_1049+4del rs587777807
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.489+1G>A

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