ClinVar Miner

List of variants studied for CEP290-related ciliopathy by Molecular Endocrinology Laboratory, Christian Medical College

Included ClinVar conditions (17):

Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14, modifier of
Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5
CEP290-related ciliopathy
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11
Joubert syndrome 5
Joubert syndrome 5; Bardet-Biedl syndrome 14
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
Meckel syndrome, type 4
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
Senior-Loken syndrome 6
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_025114.4(CEP290):c.1092T>G (p.Ile364Met)	rs201988582	0.00054
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr)	rs527704077	0.00001

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