ClinVar Miner

List of variants studied for Joubert syndrome with oculorenal defect by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (20):

Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5
COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9
Joubert syndrome 14
Joubert syndrome 16
Joubert syndrome 2
Joubert syndrome 2; Meckel syndrome, type 2
Joubert syndrome 5
Joubert syndrome 5; Bardet-Biedl syndrome 14
Joubert syndrome 9
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; 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
Meckel syndrome, type 6; Joubert syndrome 9
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93
Nephronophthisis 14
Senior-Loken syndrome 6; Joubert syndrome 5

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016464.5(TMEM138):c.261G>A (p.Val87=)	rs35245221	0.01861
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr)	rs147898137	0.01162

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