ClinVar Miner

List of variants studied for Leber congenital amaurosis 10 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (5):

Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5
Leber congenital amaurosis 10
Leber congenital amaurosis 10; Meckel syndrome, type 4; Joubert syndrome 5; Renal dysplasia and retinal aplasia
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	rs62638179	0.00006
NM_025114.4(CEP290):c.4438-3del	rs747323414	0.00004
NM_025114.4(CEP290):c.4705-2A>C	rs2137170380
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)	rs45502896

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