ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 5 by OMIM

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP
BBS5, 8-BP DEL/7-BP INS, NT263
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) rs767221160
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) rs121908582

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