ClinVar Miner

List of variants in gene ABCB4 reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His) rs121918443
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) rs387906528
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_000443.4(ABCB4):c.1712del (p.Val571fs) rs387906527
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs) rs387906529
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs) rs387906526
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) rs72552780
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_018849.3(ABCB4):c.1633C>G (p.Arg545Gly) rs397514620
NM_018849.3(ABCB4):c.3502C>T (p.Pro1168Ser) rs121918442

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.