ClinVar Miner

List of variants in gene ABCB4 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_018849.3(ABCB4):c.-1G>A rs45449704
NM_018849.3(ABCB4):c.-6-4T>C rs8187785
NM_018849.3(ABCB4):c.1119+8A>C rs1471180323
NM_018849.3(ABCB4):c.1143A>G (p.Ser381=) rs142671969
NM_018849.3(ABCB4):c.1230+15A>G rs1057522852
NM_018849.3(ABCB4):c.1231-16C>T rs56229233
NM_018849.3(ABCB4):c.1314G>A (p.Thr438=) rs45624933
NM_018849.3(ABCB4):c.1357-17A>G rs201173706
NM_018849.3(ABCB4):c.147C>T (p.Ser49=) rs8187789
NM_018849.3(ABCB4):c.1560+16A>G rs769175596
NM_018849.3(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_018849.3(ABCB4):c.1821A>C (p.Val607=)
NM_018849.3(ABCB4):c.1893+6T>C rs8187798
NM_018849.3(ABCB4):c.201C>T (p.His67=) rs747703354
NM_018849.3(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_018849.3(ABCB4):c.2394+13G>A rs370406753
NM_018849.3(ABCB4):c.2395-19C>T rs45593648
NM_018849.3(ABCB4):c.2586A>G (p.Ala862=) rs1554400942
NM_018849.3(ABCB4):c.2619T>G (p.Val873=) rs775357102
NM_018849.3(ABCB4):c.3037A>C (p.Arg1013=) rs2230029
NM_018849.3(ABCB4):c.3280-3T>C rs753672621
NM_018849.3(ABCB4):c.3306C>T (p.Leu1102=) rs561612231
NM_018849.3(ABCB4):c.3357C>T (p.Leu1119=) rs756982751
NM_018849.3(ABCB4):c.3402C>T (p.Ala1134=) rs766402494
NM_018849.3(ABCB4):c.3423C>T (p.Asp1141=)
NM_018849.3(ABCB4):c.3492C>T (p.Ile1164=) rs752578370
NM_018849.3(ABCB4):c.3507+8dup rs8187809
NM_018849.3(ABCB4):c.3564G>A (p.Gln1188=) rs140592811
NM_018849.3(ABCB4):c.456G>A (p.Lys152=) rs147333055
NM_018849.3(ABCB4):c.459T>C (p.Phe153=) rs2230027
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_018849.3(ABCB4):c.525G>A (p.Thr175=) rs558416191
NM_018849.3(ABCB4):c.536+11T>C rs8187790
NM_018849.3(ABCB4):c.696C>T (p.Ala232=) rs8187791
NM_018849.3(ABCB4):c.711A>T (p.Ile237=) rs2109505
NM_018849.3(ABCB4):c.712C>G (p.Leu238Val) rs45596335
NM_018849.3(ABCB4):c.807C>T (p.Phe269=) rs1421517860
NM_018849.3(ABCB4):c.996T>C (p.Asn332=) rs1388323440

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.