ClinVar Miner

List of variants studied for cholangitis by Mendelics

Included ClinVar conditions (7):

Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis
Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis
Isolated neonatal sclerosing cholangitis
Low phospholipid associated cholelithiasis
Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3
Neonatal ichthyosis-sclerosing cholangitis syndrome
Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	rs72552778	0.00018
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp)	rs1444056772	0.00001
NM_000443.4(ABCB4):c.2682+1G>A	rs1012575668
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter)	rs931093296

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.