ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome, type 4 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (8):

Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5
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
Meckel syndrome, type 4
Meckel syndrome, type 4; Joubert syndrome 5
Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5
Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)	rs762633090	0.00001
NM_025114.4(CEP290):c.5012+2T>C	rs1369768287	0.00001
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)	rs1555220625
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)	rs1555213204

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