ClinVar Miner

List of variants in gene ABCB4 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
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.2395-3T>C rs377462787 0.00029
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) rs8187808 0.00019
NM_000443.4(ABCB4):c.80+5A>C rs186976987 0.00016
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000443.4(ABCB4):c.3336C>T (p.Leu1112=) rs756982751 0.00009
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=) rs368458295 0.00008
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=) rs148865252 0.00006
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00006
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) rs771437431 0.00006
NM_000443.4(ABCB4):c.1356+10A>G rs374723850 0.00004
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191 0.00003
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494 0.00002
NM_000443.4(ABCB4):c.717G>A (p.Ser239=) rs770169131 0.00002
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=) rs748044865 0.00001
NM_000443.4(ABCB4):c.1821A>C (p.Val607=) rs546820262 0.00001
NM_000443.4(ABCB4):c.240G>A (p.Glu80=) rs8187787 0.00001
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=) rs1297237099 0.00001
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=) rs370310867 0.00001
NM_000443.4(ABCB4):c.102G>T (p.Thr34=) rs1277340029
NM_000443.4(ABCB4):c.1272G>A (p.Thr424=)
NM_000443.4(ABCB4):c.1356A>G (p.Thr452=)
NM_000443.4(ABCB4):c.1357-10T>C
NM_000443.4(ABCB4):c.1377T>C (p.Asp459=)
NM_000443.4(ABCB4):c.1437G>A (p.Pro479=)
NM_000443.4(ABCB4):c.1602T>C (p.Ser534=)
NM_000443.4(ABCB4):c.2064T>C (p.Leu688=)
NM_000443.4(ABCB4):c.2100C>G (p.Val700=)
NM_000443.4(ABCB4):c.2478+7A>T rs778002144
NM_000443.4(ABCB4):c.303G>A (p.Ser101=) rs886044650
NM_000443.4(ABCB4):c.3090T>C (p.Phe1030=)
NM_000443.4(ABCB4):c.309A>G (p.Leu103=)
NM_000443.4(ABCB4):c.3117C>T (p.Val1039=)
NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)
NM_000443.4(ABCB4):c.3381C>G (p.Ala1127=)
NM_000443.4(ABCB4):c.3705C>T (p.Thr1235=)
NM_000443.4(ABCB4):c.3765G>A (p.Thr1255=)
NM_000443.4(ABCB4):c.879A>G (p.Lys293=)
NM_000443.4(ABCB4):c.918G>A (p.Leu306=)

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.