ClinVar Miner

List of variants in gene LRP2 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val) rs200475391 0.00045
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn) rs199583537 0.00008
NM_004525.3(LRP2):c.5120C>T (p.Ser1707Phe) rs745788682 0.00008
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289 0.00003
NM_004525.3(LRP2):c.10660C>T (p.Arg3554Ter) rs768458485 0.00001
NM_004525.3(LRP2):c.11798A>G (p.Tyr3933Cys) rs1474741555 0.00001
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.6283C>T (p.Arg2095Ter) rs753549113 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
NC_000002.11:g.(?_169999164)_(170038849_?)dup
NM_004525.3(LRP2):c.10572-145_10582del
NM_004525.3(LRP2):c.10801T>C (p.Cys3601Arg)
NM_004525.3(LRP2):c.11245_11246del (p.Ser3749fs) rs2105278575
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter) rs372938477
NM_004525.3(LRP2):c.11497+1G>A
NM_004525.3(LRP2):c.11497+1G>C
NM_004525.3(LRP2):c.11759-1G>A
NM_004525.3(LRP2):c.11868del (p.Trp3956fs)
NM_004525.3(LRP2):c.11888-1G>T
NM_004525.3(LRP2):c.11888-2A>G
NM_004525.3(LRP2):c.12019+1G>A
NM_004525.3(LRP2):c.12244G>T (p.Glu4082Ter) rs1057520861
NM_004525.3(LRP2):c.12461+1G>A
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His) rs2105348670
NM_004525.3(LRP2):c.12811+2T>G
NM_004525.3(LRP2):c.12988+1G>A
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.13388+2T>C rs2105337522
NM_004525.3(LRP2):c.13568del (p.Asn4523fs) rs1685554004
NM_004525.3(LRP2):c.13620+1G>T
NM_004525.3(LRP2):c.13620+2T>C
NM_004525.3(LRP2):c.1773-5_1802del rs2105443879
NM_004525.3(LRP2):c.187+1G>C
NM_004525.3(LRP2):c.2006del (p.Gly669fs)
NM_004525.3(LRP2):c.2117-13_2118del
NM_004525.3(LRP2):c.2159G>C (p.Arg720Pro)
NM_004525.3(LRP2):c.2321-1G>T rs1064796610
NM_004525.3(LRP2):c.2514-2A>C
NM_004525.3(LRP2):c.2771-1G>A
NM_004525.3(LRP2):c.310+1G>C
NM_004525.3(LRP2):c.3191-2A>G
NM_004525.3(LRP2):c.3551-1G>A
NM_004525.3(LRP2):c.3667+1G>C
NM_004525.3(LRP2):c.3667+2T>A
NM_004525.3(LRP2):c.3889G>T (p.Gly1297Trp)
NM_004525.3(LRP2):c.427+1G>A
NM_004525.3(LRP2):c.427+1del
NM_004525.3(LRP2):c.427+2T>G
NM_004525.3(LRP2):c.4295-2A>G rs1064796497
NM_004525.3(LRP2):c.4733G>C (p.Arg1578Pro) rs111733491
NM_004525.3(LRP2):c.538+2T>G
NM_004525.3(LRP2):c.6040+4_6040+7del rs2105343563
NM_004525.3(LRP2):c.7557-1G>A
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004525.3(LRP2):c.7568G>A (p.Trp2523Ter)
NM_004525.3(LRP2):c.769+1G>A
NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter) rs2105329431
NM_004525.3(LRP2):c.80-2A>C rs2105516384
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
NM_004525.3(LRP2):c.8613C>A (p.Cys2871Ter) rs772158739
NM_004525.3(LRP2):c.8687del (p.Pro2896fs) rs1574121486
NM_004525.3(LRP2):c.8932T>C (p.Cys2978Arg)
NM_004525.3(LRP2):c.923-2A>G
NM_004525.3(LRP2):c.9449G>A (p.Cys3150Tyr)
NM_004525.3(LRP2):c.9733G>T (p.Asp3245Tyr) rs759025536

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.