List of variants in gene ABCB4 reported as benign for Progressive familial intrahepatic cholestasis type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.1357-40A>G	rs31675	0.92206
NM_000443.4(ABCB4):c.2211+16C>T	rs31668	0.92183
NM_000443.4(ABCB4):c.3487-16T>C	rs31653	0.91450
NM_000443.4(ABCB4):c.2211+72T>C	rs31667	0.75382
NM_000443.4(ABCB4):c.504C>T (p.Asn168=)	rs1202283	0.41614
NM_000443.4(ABCB4):c.175C>T (p.Leu59=)	rs2302387	0.23630
NM_000443.4(ABCB4):c.711A>T (p.Ile237=)	rs2109505	0.22300
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)	rs2230028	0.15378
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)	rs8187801	0.02405
NM_000443.4(ABCB4):c.459T>C (p.Phe153=)	rs2230027	0.01532
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=)	rs8187802	0.01001
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)	rs58238559	0.00914
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp)	rs8187797	0.00888
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)	rs45624933	0.00490
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=)	rs553616378	0.00001

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.