ClinVar Miner

List of variants studied for COACH syndrome by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Included ClinVar conditions (13):

Bardet-Biedl syndrome; COACH syndrome 1; Joubert syndrome 6
COACH syndrome
COACH syndrome 1
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
COACH syndrome 1; Joubert syndrome 7
COACH syndrome 1; Joubert syndrome 7; Meckel syndrome, type 5
COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9
COACH syndrome 2
COACH syndrome 3
Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93

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_153704.6(TMEM67):c.2322+2dup	rs386834192	0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)	rs797046045	0.00001

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