List of variants in gene BBS10 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	rs1555202584	0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs)	rs761101213	0.00002
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter)	rs1356713858	0.00001
NM_024685.4(BBS10):c.1091del (p.Asn364fs)	rs727503818
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)	rs898539189
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)	rs770556842
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)	rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)	rs375413604
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	rs775950661
NM_024685.4(BBS10):c.271dup (p.Cys91fs)	rs549625604
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	rs780059308
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)	rs2136091654

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