List of variants in gene BBS1, ZDHHC24 studied for BBS1-related ciliopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)	rs148948642	0.00015
NM_024649.5(BBS1):c.1244T>G (p.Val415Gly)	rs777838678	0.00003
NM_024649.5(BBS1):c.1033G>T (p.Ala345Ser)	rs755994026	0.00002
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)	rs374356964	0.00001
NM_024649.5(BBS1):c.1345C>T (p.His449Tyr)

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