List of variants in gene BBS5 reported as pathogenic for Bardet-Biedl syndrome

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 17

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HGVS	dbSNP
BBS5, 8-BP DEL/7-BP INS, NT263
NC_000002.12:g.(?_169492874)_(169493836_?)del
NM_152384.3(BBS5):c.123del (p.Gly42fs)	rs1272140892
NM_152384.3(BBS5):c.143-1G>A
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)	rs1559121920
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)	rs767221160
NM_152384.3(BBS5):c.209-2A>G	rs1477098739
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	rs121908581
NM_152384.3(BBS5):c.258+2T>C	rs1559122157
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)	rs772757329
NM_152384.3(BBS5):c.2T>A (p.Met1Lys)
NM_152384.3(BBS5):c.413G>A (p.Arg138His)	rs179363897
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
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
NM_152384.3(BBS5):c.619-1G>C

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