List of variants in gene ACVR2B reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)	rs121434437	0.00398
NM_001106.4(ACVR2B):c.*1613C>T	rs539790661	0.00312
NM_001106.4(ACVR2B):c.*1815G>A	rs188157499	0.00227
NM_001106.4(ACVR2B):c.*2025G>C	rs141130205	0.00198
NM_001106.4(ACVR2B):c.*4061dup	rs141938814	0.00185
NM_001106.4(ACVR2B):c.*1656A>T	rs112507772	0.00126
NM_001106.4(ACVR2B):c.*4741T>C	rs571225213	0.00098
NM_001106.4(ACVR2B):c.*1831G>A	rs148198904	0.00086
NM_001106.4(ACVR2B):c.1444C>T (p.Arg482Trp)	rs144370188	0.00035
NM_001106.4(ACVR2B):c.1477C>T (p.Leu493Phe)	rs150752796	0.00026
NM_001106.4(ACVR2B):c.1452G>A (p.Ser484=)	rs56280856	0.00016
NM_001106.4(ACVR2B):c.210C>T (p.Ile70=)	rs145456109	0.00015
NM_001106.4(ACVR2B):c.1410C>T (p.Ser470=)	rs141985115	0.00012
NM_001106.4(ACVR2B):c.*3758A>G	rs185712997	0.00006
NM_001106.4(ACVR2B):c.*767C>T	rs371324588	0.00006
NM_001106.4(ACVR2B):c.*9737C>T	rs549166852	0.00001
NM_001106.4(ACVR2B):c.260+7C>G	rs147683346	0.00001
NM_001106.4(ACVR2B):c.482G>A (p.Arg161Gln)	rs572594763	0.00001
NM_001106.4(ACVR2B):c.*48del	rs151147030
NM_001106.4(ACVR2B):c.*7719del	rs746676726

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.