List of variants in gene BBS5 reported as pathogenic for Bardet-Biedl syndrome 5

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_152384.3(BBS5):c.143-1G>C	rs1054138918	0.00004
NM_152384.3(BBS5):c.619-1G>C	rs753234582	0.00004
NM_152384.3(BBS5):c.209-1G>A	rs1172161975	0.00001
NM_152384.3(BBS5):c.209-2A>G	rs1477098739	0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	rs121908581	0.00001
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)	rs772757329	0.00001
BBS5, 8-BP DEL/7-BP INS, NT263
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)	rs767221160
NM_152384.3(BBS5):c.258+2T>C	rs1559122157
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)	rs1574339529
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)	rs1574339529
NM_152384.3(BBS5):c.522+3A>G	rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)	rs121908582
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs)	rs1683644409
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)	rs1471916487
NM_152384.3:c.(?_-60)_(386+1_387-1)del

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