"Revvity Omics, Revvity"[submitter] AND "BBS7"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1361921	NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile)	BBS7 (K681I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
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 2439481	NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)	BBS7 (C167Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance

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