ClinVar Miner

List of variants 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:
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ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter) rs879254672 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter) rs767024374
NM_000527.5(LDLR):c.1008del (p.Gly335_Tyr336insTer) rs879254751
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) rs879254758
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1061-1G>A rs879254774
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1085del (p.Asp362fs) rs879254786
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter) rs113669610
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs) rs879254799
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter) rs879254805
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1187del
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1257C>A (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.126C>G (p.Tyr42Ter) rs751317621
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1330del (p.Ser444fs) rs1057519671
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1343del (p.Gln448fs) rs879254872
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter) rs879254907
NM_000527.5(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs) rs879254919
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1478del (p.Ser493fs) rs1057519672
NM_000527.5(LDLR):c.1529del (p.Thr510fs) rs1057519673
NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs) rs879254935
NM_000527.5(LDLR):c.1571_1572del (p.Val524fs) rs1057519674
NM_000527.5(LDLR):c.1587-2A>T rs879254947
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.5(LDLR):c.1610del (p.Gly537fs) rs879254959
NM_000527.5(LDLR):c.1632del (p.Gly546fs) rs879254964
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000527.5(LDLR):c.1705+2_1705+3insC rs879254994
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1718del (p.Gly573fs) rs879254998
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1737del (p.Ser580fs) rs879255005
NM_000527.5(LDLR):c.1749_1753del (p.Ser584fs) rs879255008
NM_000527.5(LDLR):c.1773_1774delinsT (p.Gly593fs) rs1057519676
NM_000527.5(LDLR):c.1778del (p.Gly593fs) rs875989931
NM_000527.5(LDLR):c.1845+1G>C
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.191T>A (p.Leu64Ter) rs774016801
NM_000527.5(LDLR):c.1934dup (p.Asn645fs) rs879255076
NM_000527.5(LDLR):c.1961_1965dup (p.His656fs) rs879255088
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.5(LDLR):c.1980_1983del (p.Pro661fs) rs1057519679
NM_000527.5(LDLR):c.1988-2A>G rs879255101
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2068del (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2068dup (p.His690fs)
NM_000527.5(LDLR):c.2078dup (p.Phe694fs) rs1057519682
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs) rs879255133
NM_000527.5(LDLR):c.2085del (p.Cys696fs) rs1057519683
NM_000527.5(LDLR):c.2134dup (p.Leu712fs) rs1057519685
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs) rs1057519687
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs) rs879255207
NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter) rs879255213
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs) rs387906302
NM_000527.5(LDLR):c.244_250dup (p.Pro84fs) rs1057519653
NM_000527.5(LDLR):c.244del (p.Cys82fs) rs879254446
NM_000527.5(LDLR):c.2482dup (p.Tyr828fs) rs1057519690
NM_000527.5(LDLR):c.2509del (p.His837fs)
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter) rs875989893
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.5(LDLR):c.301G>T (p.Glu101Ter) rs144172724
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+1G>T rs112029328
NM_000527.5(LDLR):c.313+1dup rs879254466
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.314-2A>T rs879254470
NM_000527.5(LDLR):c.327C>A (p.Cys109Ter) rs1057519654
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.350_372dup (p.Gln125fs) rs879254487
NM_000527.5(LDLR):c.41dup (p.Leu14fs) rs879254388
NM_000527.5(LDLR):c.450dup (p.Ala151fs) rs879254530
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.465C>A (p.Cys155Ter) rs766094434
NM_000527.5(LDLR):c.482_488del (p.Ile161fs) rs879254542
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.518del (p.Cys173fs) rs879254559
NM_000527.5(LDLR):c.535G>T (p.Glu179Ter) rs879254567
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.609del (p.Cys204fs) rs879254591
NM_000527.5(LDLR):c.617del (p.Ser206fs) rs879254594
NM_000527.5(LDLR):c.646del (p.Cys216fs) rs879254609
NM_000527.5(LDLR):c.666_682dup (p.Glu228fs) rs1057519662
NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer) rs879254623
NM_000527.5(LDLR):c.67+2T>A rs879254394
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.680_692del (p.Asp227fs) rs1057519660
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.681_682insTGAG (p.Glu228Ter) rs1555803427
NM_000527.5(LDLR):c.681del (p.Asp227fs) rs1057519661
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682del (p.Glu228fs) rs879254640
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.781del (p.Cys261fs) rs879254674
NM_000527.5(LDLR):c.783C>A (p.Cys261Ter) rs1057519663
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.875dup (p.Asp293fs) rs879254701
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr) rs121908030
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.5(LDLR):c.932_933del (p.Lys311fs) rs879254723
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.940+1dup rs1057519666
NM_000527.5(LDLR):c.940+2T>A rs875989912
NM_000527.5(LDLR):c.940+2T>G rs875989912
NM_000527.5(LDLR):c.940_940+14del rs1057519665
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.967G>T (p.Gly323Cys) rs373869746
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) rs28942111

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