Variants in gene ABCB11 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 21

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	rs188824058	0.00013
NM_003742.4(ABCB11):c.2012-8T>G	rs769910565	0.00006
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)	rs72549395	0.00004
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)	rs886043807	0.00003
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)	rs763782349	0.00003
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)	rs72549396	0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)	rs766285158	0.00002
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	rs752043324	0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)	rs760750012	0.00001
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)	rs886043986	0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)	rs772294884	0.00001
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)	rs748862206	0.00001
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)	rs139641883	0.00001
NM_003742.4(ABCB11):c.150+3A>C	rs387906354
NM_003742.4(ABCB11):c.1789dup (p.Val597fs)
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)	rs1692870573
NM_003742.4(ABCB11):c.2343+1G>T	rs774411820
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
NM_003742.4(ABCB11):c.390-1G>T	rs1558917090
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	rs1382100120
NM_003742.4(ABCB11):c.908+1G>C	rs147649016

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.