ClinVar Miner

List of variants studied for Progressive familial intrahepatic cholestasis type 3 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41614
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) rs2302387 0.23630
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22300
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15378
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02405
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789 0.01759
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) rs2230027 0.01532
NM_000443.4(ABCB4):c.-6-4T>C rs8187785 0.01231
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=) rs8187802 0.01001
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00914
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) rs45574932 0.00325
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00182
NM_000443.4(ABCB4):c.-1G>A rs45449704 0.00181
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00074
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00073
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
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.2137G>A (p.Val713Met) rs373122168 0.00019
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) rs199662246 0.00018
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) rs144398632 0.00015
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) rs199504845 0.00015
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val) rs8187811 0.00014
NM_000443.4(ABCB4):c.-18G>T rs886062461 0.00012
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) rs532332220 0.00009
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537 0.00007
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00007
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) rs376825608 0.00006
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) rs145056464 0.00005
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=) rs886062459 0.00002
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile) rs774347020 0.00002
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=) rs761918535 0.00001
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val) rs367709575 0.00001
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) rs747255117 0.00001
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala) rs1809055658 0.00001
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=) rs8187807 0.00001
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp) rs747453583 0.00001
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=) rs370310867 0.00001
NM_000443.4(ABCB4):c.1005+3A>G rs1811389784
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu) rs1813502867
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val) rs1811115234
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr) rs1562976223
NM_000443.4(ABCB4):c.147C>A (p.Ser49=) rs8187789
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu) rs1809490932
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=) rs148865252
NM_000443.4(ABCB4):c.2478+7A>T rs778002144
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe) rs764913373
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg) rs1808202820
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=) rs1807938184
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His) rs1160711086
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala) rs542995265
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu) rs756070393

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.