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

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_152384.3(BBS5):c.108C>T (p.Ser36=)	rs16823066	0.02951
NM_152384.3(BBS5):c.285C>T (p.Leu95=)	rs6752540	0.00882
NM_152384.3(BBS5):c.501T>A (p.Val167=)	rs75690869	0.00879
NM_152384.3(BBS5):c.620G>A (p.Arg207His)	rs35487251	0.00625
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)	rs137853921	0.00380
NM_152384.3(BBS5):c.750C>T (p.Ile250=)	rs76138485	0.00188
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)	rs143191074	0.00187
NM_152384.3(BBS5):c.190T>C (p.Leu64=)	rs777369461	0.00005
NM_152384.3(BBS5):c.817-5T>G	rs780213701	0.00005
NM_152384.3(BBS5):c.258+14dup
NM_152384.3(BBS5):c.523-5del
NM_152384.3(BBS5):c.619-16_619-15del	rs762885469

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