ClinVar Miner

List of variants in gene ABCB11 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.1360G>T (p.Val454Leu) rs758400152 0.00001
NM_003742.4(ABCB11):c.1064C>T (p.Thr355Ile) rs767525336
NM_003742.4(ABCB11):c.1349T>C (p.Met450Thr)
NM_003742.4(ABCB11):c.1607A>G (p.Asn536Ser)
NM_003742.4(ABCB11):c.1669G>A (p.Gly557Ser)
NM_003742.4(ABCB11):c.1735A>T (p.Ile579Phe)
NM_003742.4(ABCB11):c.2068A>G (p.Ser690Gly)
NM_003742.4(ABCB11):c.2077G>A (p.Ala693Thr) rs748837264
NM_003742.4(ABCB11):c.2149C>T (p.His717Tyr)
NM_003742.4(ABCB11):c.2194G>A (p.Val732Met)
NM_003742.4(ABCB11):c.2447A>C (p.Gln816Pro)
NM_003742.4(ABCB11):c.284T>C (p.Val95Ala)
NM_003742.4(ABCB11):c.3136A>T (p.Ile1046Leu)
NM_003742.4(ABCB11):c.3213+1del rs1553546495
NM_003742.4(ABCB11):c.3218A>G (p.Asn1073Ser)
NM_003742.4(ABCB11):c.3244G>T (p.Asp1082Tyr)
NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr) rs754048936
NM_003742.4(ABCB11):c.3508A>T (p.Ile1170Leu)
NM_003742.4(ABCB11):c.355C>G (p.Leu119Val)
NM_003742.4(ABCB11):c.416T>C (p.Ile139Thr)
NM_003742.4(ABCB11):c.430T>A (p.Tyr144Asn)
NM_003742.4(ABCB11):c.481T>C (p.Cys161Arg)

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.