ClinVar Miner

List of variants in gene ABCB4 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1005+98A>G rs45505300 0.01341
NM_000443.4(ABCB4):c.136-74C>T rs115043985 0.01329
NM_000443.4(ABCB4):c.136-81del rs149935119 0.01327
NM_000443.4(ABCB4):c.1356+26A>G rs45505699 0.01051
NM_000443.4(ABCB4):c.80+114G>C rs45619531 0.00796
NM_000443.4(ABCB4):c.1732-39A>G rs141424866 0.00781
NM_000443.4(ABCB4):c.2924+92del rs371806200 0.00574
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_000443.4(ABCB4):c.3633+84A>G rs45552036 0.00459
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.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.3402C>T (p.Asp1134=) rs371394487 0.00027
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.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.1006-117del rs147821186
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.3082-179C>G rs45526441
NM_000443.4(ABCB4):c.345-65GAAAA[3] rs199500302
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) rs752578370
NM_000443.4(ABCB4):c.3486+10dup rs8187809

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.