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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	rs119103286	0.00004
NM_144596.4(TTC8):c.624+1G>A	rs587777808	0.00001
NM_144596.4(TTC8):c.1049+2_1049+4del	rs587777807
NM_144596.4(TTC8):c.114+1G>T
NM_144596.4(TTC8):c.114+2T>C	rs1273244823
NM_144596.4(TTC8):c.1252C>T (p.Gln418Ter)
NM_144596.4(TTC8):c.462_465del (p.Ser155fs)
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)	rs376035653
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del)	rs587777806
NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del

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