ClinVar Miner

List of variants in gene ABCB4 reported by PreventionGenetics,PreventionGenetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_000443.4(ABCB4):c.-1G>A rs45449704
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) rs2302387
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.4(ABCB4):c.1893+6T>C rs8187798
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) rs2230027
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505
NM_000443.4(ABCB4):c.833+6G>A rs202146217
NM_018849.3(ABCB4):c.2211+16C>T rs31668
NM_018849.3(ABCB4):c.2395-19C>T rs45593648
NM_018849.3(ABCB4):c.3402C>T (p.Ala1134=) rs766402494
NM_018849.3(ABCB4):c.3508-16T>C rs31653

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.