ClinVar Miner

List of variants in gene ABCB11 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003742.4(ABCB11):c.76+1G>A rs1413569310 0.00002
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) rs752043324 0.00001
NC_000002.11:g.(?_169783656)_(169783882_?)del
NC_000002.11:g.(?_169783666)_(169783872_?)del
NC_000002.11:g.(?_169814464)_(169814648_?)del
NC_000002.11:g.(?_169842610)_(169852002_?)del
NC_000002.11:g.(?_169842610)_(169853242_?)dup
NM_003742.4(ABCB11):c.1083+2T>C rs2105996078
NM_003742.4(ABCB11):c.1190_1197+15del
NM_003742.4(ABCB11):c.1198-2A>C
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) rs121908935
NM_003742.4(ABCB11):c.1409G>T (p.Arg470Leu)
NM_003742.4(ABCB11):c.1435-1G>A
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_003742.4(ABCB11):c.1459C>T (p.Arg487Cys)
NM_003742.4(ABCB11):c.1460G>T (p.Arg487Leu)
NM_003742.4(ABCB11):c.150+2T>C rs1210590064
NM_003742.4(ABCB11):c.151-2A>G
NM_003742.4(ABCB11):c.1543A>G (p.Asn515Asp)
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser) rs886043807
NM_003742.4(ABCB11):c.1763C>G (p.Ala588Gly)
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly) rs199671371
NM_003742.4(ABCB11):c.2011+1G>C
NM_003742.4(ABCB11):c.2011+1G>T
NM_003742.4(ABCB11):c.2449-1G>A
NM_003742.4(ABCB11):c.3056+1G>A rs1243952083
NM_003742.4(ABCB11):c.3081T>A (p.Ser1027Arg)
NM_003742.4(ABCB11):c.3094G>C (p.Gly1032Arg) rs2105891596
NM_003742.4(ABCB11):c.319T>C (p.Cys107Arg)
NM_003742.4(ABCB11):c.3412-1G>A rs1691365745
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
NM_003742.4(ABCB11):c.3634G>T (p.Val1212Phe)
NM_003742.4(ABCB11):c.3691C>G (p.Arg1231Gly)
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.477+1G>A
NM_003742.4(ABCB11):c.77-2A>G
NM_003742.4(ABCB11):c.784-1G>C
NM_003742.4(ABCB11):c.907_908+9del rs2106004648
NM_003742.4(ABCB11):c.98+1G>A rs1695369774

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.