ClinVar Miner

List of variants studied for Senior-Boichis syndrome by Molecular Biology Laboratory, Fundació Puigvert

Included ClinVar conditions (6):

Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19
Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis
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
Nephronophthisis 11
Nephronophthisis 19

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.1057_1065+2del	rs1813838655
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)	rs138783896
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr)	rs1813039419

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