ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 137
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del
NM_000527.4(LDLR):c.1008C>A (p.Tyr336Ter) rs767024374
NM_000527.4(LDLR):c.1008del (p.Gly335_Tyr336insTer) rs879254751
NM_000527.4(LDLR):c.1019_1020delinsTG (p.Cys340Leu) rs879254758
NM_000527.4(LDLR):c.1033C>T (p.Gln345Ter) rs875989913
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter) rs769737896
NM_000527.4(LDLR):c.1056_1060+3delCGAAGGTG rs879254770
NM_000527.4(LDLR):c.1061-1G>A rs879254774
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1085del (p.Asp362fs) rs879254786
NM_000527.4(LDLR):c.1104C>A (p.Cys368Ter) rs113669610
NM_000527.4(LDLR):c.1120_1123dup (p.Tyr375fs) rs879254799
NM_000527.4(LDLR):c.1150C>T (p.Gln384Ter) rs879254805
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1187del rs1057519667
NM_000527.4(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.4(LDLR):c.1257C>A (p.Tyr419Ter) rs774439908
NM_000527.4(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.4(LDLR):c.126C>G (p.Tyr42Ter) rs751317621
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1330del (p.Ser444fs) rs1057519671
NM_000527.4(LDLR):c.1342C>T (p.Gln448Ter) rs879254871
NM_000527.4(LDLR):c.1343del (p.Gln448fs) rs879254872
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1449G>A (p.Trp483Ter) rs879254907
NM_000527.4(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs) rs879254919
NM_000527.4(LDLR):c.1478_1479delCT (p.S493Cfs*41) rs869025453
NM_000527.4(LDLR):c.1478del (p.Ser493fs) rs1057519672
NM_000527.4(LDLR):c.1529del (p.Thr510fs) rs1057519673
NM_000527.4(LDLR):c.1549_1555del (p.Ser517fs) rs879254935
NM_000527.4(LDLR):c.1571_1572del (p.Val524fs) rs1057519674
NM_000527.4(LDLR):c.1587-2A>T rs879254947
NM_000527.4(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.4(LDLR):c.1610del (p.Gly537fs) rs879254959
NM_000527.4(LDLR):c.1632del (p.Gly546fs) rs879254964
NM_000527.4(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
NM_000527.4(LDLR):c.1705+1G>T rs875989926
NM_000527.4(LDLR):c.1705+2_1705+3insC rs879254994
NM_000527.4(LDLR):c.1706-2A>T rs878854027
NM_000527.4(LDLR):c.1718del (p.Gly573fs) rs879254998
NM_000527.4(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.4(LDLR):c.1737del (p.Ser580fs) rs879255005
NM_000527.4(LDLR):c.1749_1753del (p.Ser584fs) rs879255008
NM_000527.4(LDLR):c.1773_1774delinsT (p.Gly593fs) rs1057519676
NM_000527.4(LDLR):c.1778del (p.Gly593fs) rs875989931
NM_000527.4(LDLR):c.1845+1G>C rs879255049
NM_000527.4(LDLR):c.1845+2T>C rs778408161
NM_000527.4(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.4(LDLR):c.191-1G>A rs879254433
NM_000527.4(LDLR):c.191T>A (p.Leu64Ter) rs774016801
NM_000527.4(LDLR):c.1934dup (p.Asn645fs) rs879255076
NM_000527.4(LDLR):c.1961_1965dup (p.His656fs) rs879255088
NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.4(LDLR):c.1980_1983del (p.Pro661fs) rs1057519679
NM_000527.4(LDLR):c.1988-2A>G rs879255101
NM_000527.4(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.4(LDLR):c.2068del (p.His690fs) rs879255130
NM_000527.4(LDLR):c.2068dup (p.His690fs) rs879255130
NM_000527.4(LDLR):c.2078dup (p.Phe694fs) rs1057519682
NM_000527.4(LDLR):c.2085_2103del (p.Ala697fs) rs879255133
NM_000527.4(LDLR):c.2085del (p.Cys696fs) rs1057519683
NM_000527.4(LDLR):c.2134dup (p.Leu712fs) rs1057519685
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.4(LDLR):c.2295_2302del (p.Thr766fs) rs1057519687
NM_000527.4(LDLR):c.2311+1G>T rs879255175
NM_000527.4(LDLR):c.2311+2T>G rs879255176
NM_000527.4(LDLR):c.2417_2418insG (p.Phe807fs) rs879255207
NM_000527.4(LDLR):c.2446A>T (p.Lys816Ter) rs879255213
NM_000527.4(LDLR):c.2447_2450dupAGAA (p.Asn817Lysfs) rs387906302
NM_000527.4(LDLR):c.244_250dup (p.Pro84fs) rs1057519653
NM_000527.4(LDLR):c.244del (p.Cys82fs) rs879254446
NM_000527.4(LDLR):c.2482dup (p.Tyr828fs) rs1057519690
NM_000527.4(LDLR):c.2509del (p.His837fs) rs879255221
NM_000527.4(LDLR):c.253C>T (p.Gln85Ter) rs875989893
NM_000527.4(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.4(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.4(LDLR):c.301G>T (p.Glu101Ter) rs144172724
NM_000527.4(LDLR):c.313+1G>C rs112029328
NM_000527.4(LDLR):c.313+1G>T rs112029328
NM_000527.4(LDLR):c.313_313+1delCG rs875989896
NM_000527.4(LDLR):c.314-2A>T rs879254470
NM_000527.4(LDLR):c.327C>A (p.Cys109Ter) rs1057519654
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.350_372dup (p.Gln125fs) rs879254487
NM_000527.4(LDLR):c.41dup (p.Leu14fs) rs879254388
NM_000527.4(LDLR):c.429C>A (p.Cys143Ter) rs199774121
NM_000527.4(LDLR):c.450dup (p.Ala151fs) rs879254530
NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.4(LDLR):c.465C>A (p.Cys155Ter) rs766094434
NM_000527.4(LDLR):c.482_488del (p.Ile161fs) rs879254542
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.518del (p.Cys173fs) rs879254559
NM_000527.4(LDLR):c.535G>T (p.Glu179Ter) rs879254567
NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.609del (p.Cys204fs) rs879254591
NM_000527.4(LDLR):c.617del (p.Ser206fs) rs879254594
NM_000527.4(LDLR):c.646del (p.Cys216fs) rs879254609
NM_000527.4(LDLR):c.666_682dup (p.Glu228fs) rs1057519662
NM_000527.4(LDLR):c.666_687del (p.Asp221_Cys222insTer) rs879254623
NM_000527.4(LDLR):c.67+2T>A rs879254394
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
NM_000527.4(LDLR):c.680_692del (p.Asp227fs) rs1057519660
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.681_682insTGAG (p.Glu228Ter) rs1555803427
NM_000527.4(LDLR):c.681del (p.Asp227fs) rs1057519661
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.682del (p.Glu228fs) rs879254640
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.772G>T (p.Glu258Ter) rs879254672
NM_000527.4(LDLR):c.781del (p.Cys261fs) rs879254674
NM_000527.4(LDLR):c.783C>A (p.Cys261Ter) rs1057519663
NM_000527.4(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.4(LDLR):c.828C>G (p.Cys276Trp) rs146651743
NM_000527.4(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.4(LDLR):c.875dup (p.Asp293fs) rs879254701
NM_000527.4(LDLR):c.910G>T (p.Asp304Tyr) rs121908030
NM_000527.4(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.4(LDLR):c.932_933del (p.Lys311fs) rs879254723
NM_000527.4(LDLR):c.940+1G>C rs879254729
NM_000527.4(LDLR):c.940+1dup rs1057519666
NM_000527.4(LDLR):c.940+2T>A rs875989912
NM_000527.4(LDLR):c.940+2T>G rs875989912
NM_000527.4(LDLR):c.940_940+14del rs1057519665
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.967G>T (p.Gly323Cys) rs373869746
NM_000527.4(LDLR):c.97C>T (p.Gln33Ter) rs121908024
NM_001195798.2(LDLR):c.313+1dup rs879254466

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.