List of variants reported as likely pathogenic for Bardet-Biedl syndrome 8

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_144596.4(TTC8):c.114+2T>C	rs1273244823
NM_144596.4(TTC8):c.489+1G>A
NM_144596.4(TTC8):c.69del (p.Cys23fs)	rs2094690718
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)	rs1595959305
NM_144596.4(TTC8):c.79dup (p.Cys27fs)
NM_144596.4(TTC8):c.901_905del (p.Arg300_Ile301insTer)

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