List of variants in gene BBS10 reported as likely pathogenic 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)	rs575957641	0.00002
NM_024685.4(BBS10):c.1184dup (p.His395fs)	rs786204573	0.00001
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del)	rs750611000
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)	rs1368733646
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)	rs199474722
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)	rs537219462
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter)	rs2136091512
NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	rs775950661
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)	rs1951753208
NM_024685.4(BBS10):c.235dup (p.Thr79fs)	rs760693838
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)	rs2136091244
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)	rs553291328
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)	rs863224522
NM_024685.4(BBS10):c.646dup (p.Asp216fs)	rs1555202695
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)	rs771325212
NM_024685.4(BBS10):c.968C>T (p.Ala323Val)

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