List of variants in gene LRP2 reported as likely pathogenic for autosomal recessive disease

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004525.3(LRP2):c.188-2A>G	rs760114690	0.00001
NM_004525.3(LRP2):c.2639+1G>A	rs746752313	0.00001
NM_004525.3(LRP2):c.3667+1G>A	rs752197557	0.00001
NM_004525.3(LRP2):c.9575G>A (p.Arg3192Gln)	rs753667280	0.00001
GRCh37/hg19 2q31.1(chr2:170134234-170137049)
NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter)	rs372938477
NM_004525.3(LRP2):c.11868del (p.Trp3956fs)
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His)	rs2105348670
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)	rs80338754
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)	rs80338754
NM_004525.3(LRP2):c.13568del (p.Asn4523fs)	rs1685554004
NM_004525.3(LRP2):c.2006del (p.Gly669fs)
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)	rs80338747
NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter)	rs2105329431
NM_004525.3(LRP2):c.8095C>T (p.Arg2699Ter)	rs1236195196
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter)	rs1358532875
NM_004525.3(LRP2):c.857G>T (p.Cys286Phe)	rs2105467271

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.