"Blueprint Genetics"[submitter] AND "BBS7"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866308	NM_176824.3(BBS7):c.1002del (p.Asn335fs)	BBS7 (N335fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7 +2 more	GPathogenic
Select item 281626	NM_176824.3(BBS7):c.712_715del (p.Arg238fs)	BBS7 (R238fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7 +3 more	GPathogenic
Select item 866307	NM_176824.3(BBS7):c.342-2A>G	BBS7	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic

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