ClinVar Miner

List of variants in gene ABCB4 reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_000443.4(ABCB4):c.536+11T>C rs8187790 0.00315
NM_000443.4(ABCB4):c.2395-19C>T rs45593648 0.00260
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) rs147333055 0.00177
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val) rs45596335 0.00155
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_000443.4(ABCB4):c.2394+13G>A rs370406753 0.00058
NM_000443.4(ABCB4):c.1231-16C>T rs56229233 0.00037
NM_000443.4(ABCB4):c.1357-17A>G rs201173706 0.00037
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=) rs140592811 0.00025
NM_000443.4(ABCB4):c.3336C>T (p.Leu1112=) rs756982751 0.00009
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00006
NM_000443.4(ABCB4):c.1143A>G (p.Ser381=) rs142671969 0.00003
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191 0.00003
NM_000443.4(ABCB4):c.201C>T (p.His67=) rs747703354 0.00002
NM_000443.4(ABCB4):c.3280-24T>C rs753672621 0.00002
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494 0.00002
NM_000443.4(ABCB4):c.1119+8A>C rs1471180323 0.00001
NM_000443.4(ABCB4):c.1230+15A>G rs1057522852 0.00001
NM_000443.4(ABCB4):c.1560+16A>G rs769175596 0.00001
NM_000443.4(ABCB4):c.1821A>C (p.Val607=) rs546820262 0.00001
NM_000443.4(ABCB4):c.2619T>G (p.Val873=) rs775357102 0.00001
NM_000443.4(ABCB4):c.807C>T (p.Phe269=) rs1421517860 0.00001
NM_000443.4(ABCB4):c.996T>C (p.Asn332=) rs1388323440 0.00001
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_000443.4(ABCB4):c.2586A>G (p.Ala862=) rs1554400942
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) rs752578370

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.