Variants with conflicting interpretations "uncertain significance" from Iberoamerican FH Network and "likely pathogenic" from any submitter

Minimum review status of the submission from Iberoamerican FH Network:		Collection method of the submission from Iberoamerican FH Network:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)	rs779732323	0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)	rs201102492	0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)	rs879255047	0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)	rs730882090	0.00001
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
NM_000527.4(LDLR):c.-140C>A
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)	rs879254781
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1186+5G>A	rs879254821
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)	rs794728584
NM_000527.5(LDLR):c.2389+4A>G	rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)	rs879254457
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe)	rs875989895
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)	rs879254659
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg)	rs879254697

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.