List of variants reported as likely pathogenic for cholestasis by Mendelics

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

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.2784-12T>C	rs201498350	0.00019
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)	rs121909100	0.00009
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)	rs143456575	0.00004
NM_000443.4(ABCB4):c.1119+5G>A	rs1584750653
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala)	rs863225298
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)	rs1584747270
NM_001374385.1(ATP8B1):c.173del (p.Phe58fs)	rs1599166106
NM_001374385.1(ATP8B1):c.3015+1G>T	rs1599069873
NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val)	rs1599066459
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met)	rs564811653
NM_003742.4(ABCB11):c.2076-1G>A	rs2105947080
NM_003742.4(ABCB11):c.2179-1G>A	rs2105935255
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)	rs1258387740
NM_018849.2(ABCB4):c.[431G>A;1210C>G]

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.