ClinVar Miner

List of variants reported as benign for autosomal dominant polycystic liver disease by Genome-Nilou Lab

Included ClinVar conditions (14):

ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts
Autosomal dominant polycystic liver disease
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Postmenopausal osteoporosis; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts
Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Polycystic liver disease 1; Osteoporosis with pseudoglioma
Polycystic kidney disease, adult type; Autosomal dominant polycystic liver disease
Polycystic liver disease 1
Polycystic liver disease 1; Aortic dilatation; Aortic dissection; Ascending aortic dissection
Polycystic liver disease 1; Polycystic kidney disease
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia; Cystic renal dysplasia
Polycystic liver disease 2
Polycystic liver disease 3 with or without kidney cysts
Polycystic liver disease 4 with or without kidney cysts

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001289104.2(PRKCSH):c.850-14T>C	rs186375	0.99255
NM_007214.5(SEC63):c.564C>T (p.Asn188=)	rs675117	0.87051
NM_007214.5(SEC63):c.340-7T>C	rs1569557	0.00081
NM_007214.5(SEC63):c.340-8T>C	rs1569556	0.00016
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del)	rs3217229
NM_007214.5(SEC63):c.340-10T>C	rs532887617
NM_007214.5(SEC63):c.340-11T>C	rs77730234
NM_007214.5(SEC63):c.340-12G>C	rs2064201
NM_007214.5(SEC63):c.340-12_340-11del	rs139413431
NM_007214.5(SEC63):c.340-12_340-8del	rs747514864
NM_007214.5(SEC63):c.340-6_340-4dup	rs142388422
NM_007214.5(SEC63):c.340-9_340-7del	rs66526324

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