ClinVar Miner

List of variants reported as likely 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

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ClinVar version:
Total variants: 217
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HGVS dbSNP
NM_000384.3(APOB):c.10186G>A (p.Ala3396Thr) rs1553383017
NM_000527.4(LDLR):c.-124dup rs1057519649
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-155_-150del rs1057519648
NM_000527.4(LDLR):c.-168A>G rs1057519647
NM_000527.4(LDLR):c.-99A>G rs1057519650
NM_000527.4(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.4(LDLR):c.1056C>A (p.Cys352Ter) rs13306515
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1061A>C (p.Asp354Ala) rs755449669
NM_000527.4(LDLR):c.1067A>C (p.Asp356Ala) rs879254777
NM_000527.4(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1103G>C (p.Cys368Ser) rs768430352
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.4(LDLR):c.1135T>G (p.Cys379Gly) rs879254803
NM_000527.4(LDLR):c.1153C>G (p.Leu385Val) rs879254808
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1204_1206TTC[1] (p.Phe403del) rs879254830
NM_000527.4(LDLR):c.1205T>C (p.Phe402Ser) rs1057519668
NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1231A>G (p.Lys411Glu) rs879254840
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1256A>G (p.Tyr419Cys) rs1057519669
NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1315A>T (p.Asn439Tyr) rs1057519670
NM_000527.4(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.4(LDLR):c.1418T>A (p.Ile473Asn) rs879254895
NM_000527.4(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.4(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
NM_000527.4(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1487G>T (p.Gly496Val) rs751603969
NM_000527.4(LDLR):c.1494_1495CT[1] (p.Ser499fs) rs879254922
NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.4(LDLR):c.1555C>T (p.Pro519Ser) rs875989923
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+1G>A rs755389753
NM_000527.4(LDLR):c.1597T>C (p.Trp533Arg) rs879254951
NM_000527.4(LDLR):c.1606T>G (p.Trp536Gly) rs879254956
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.4(LDLR):c.1644T>G (p.Asn548Lys) rs879254970
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1687C>T (p.Pro563Ser) rs879254986
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.4(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.4(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.4(LDLR):c.1705G>A (p.Asp569Asn) rs879254993
NM_000527.4(LDLR):c.1705G>T (p.Asp569Tyr) rs879254993
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.4(LDLR):c.1730G>C (p.Trp577Ser) rs138947766
NM_000527.4(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.4(LDLR):c.1736A>G (p.Asp579Gly) rs879255003
NM_000527.4(LDLR):c.1738T>C (p.Ser580Pro) rs1057519675
NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.4(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.4(LDLR):c.1823C>G (p.Pro608Arg) rs879255035
NM_000527.4(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.4(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.4(LDLR):c.1844A>T (p.Glu615Val) rs879255046
NM_000527.4(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.4(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.4(LDLR):c.185C>G (p.Thr62Arg) rs376207800
NM_000527.4(LDLR):c.1868_1870TCA[1] (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.4(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.4(LDLR):c.1880C>T (p.Ala627Val) rs875989934
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.4(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1973T>C (p.Leu658Pro) rs879255092
NM_000527.4(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.4(LDLR):c.1982C>T (p.Pro661Leu) rs1057519680
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.4(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2056C>G (p.Gln686Glu) rs879255126
NM_000527.4(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.4(LDLR):c.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.4(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127
NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2390-1G>C rs879255193
NM_000527.4(LDLR):c.2392_2400del (p.Leu798_Val800del) rs879255194
NM_000527.4(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.244T>G (p.Cys82Gly) rs879254447
NM_000527.4(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.4(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.4(LDLR):c.2547+5G>C rs879255226
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.265T>G (p.Cys89Gly) rs879254455
NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.4(LDLR):c.291C>G (p.Asn97Lys) rs372845091
NM_000527.4(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.4(LDLR):c.313+2dup rs875989897
NM_000527.4(LDLR):c.313+5G>A rs879254467
NM_000527.4(LDLR):c.316_336del (p.Pro106_Asp112del) rs879254472
NM_000527.4(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.4(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.4(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_000527.4(LDLR):c.377T>C (p.Phe126Ser) rs879254502
NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr) rs879254506
NM_000527.4(LDLR):c.407A>T (p.Asp136Val) rs879254516
NM_000527.4(LDLR):c.409G>T (p.Gly137Cys) rs730882082
NM_000527.4(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.4(LDLR):c.442_504del (p.Cys148_Asp168del) rs1555803257
NM_000527.4(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.4(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.4(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.4(LDLR):c.501C>G (p.Cys167Trp) rs752596535
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.503A>C (p.Asp168Ala) rs879254549
NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.4(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.4(LDLR):c.610T>G (p.Cys204Gly) rs1057519655
NM_000527.4(LDLR):c.611G>A (p.Cys204Tyr) rs879254592
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.629T>C (p.Ile210Thr) rs879254601
NM_000527.4(LDLR):c.641G>C (p.Trp214Ser) rs879254605
NM_000527.4(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.4(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.4(LDLR):c.648_656del (p.Asp217_Gly219del) rs879254613
NM_000527.4(LDLR):c.660_666dup (p.Lys223fs) rs1057519657
NM_000527.4(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.664_681del (p.Cys222_Asp227del) rs387906306
NM_000527.4(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.4(LDLR):c.667_693del (p.Lys223_Cys231del) rs879254624
NM_000527.4(LDLR):c.669G>C (p.Lys223Asn) rs879254627
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.673_674insTGCAA (p.Lys225fs) rs879254618
NM_000527.4(LDLR):c.673_681dup (p.Lys225_Asp227dup) rs1555803425
NM_000527.4(LDLR):c.674_683del (p.Lys225fs) rs1057519659
NM_000527.4(LDLR):c.68-1G>A rs879254397
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.4(LDLR):c.693C>G (p.Cys231Trp) rs121908035
NM_000527.4(LDLR):c.694+1G>T rs879254646
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.706T>G (p.Cys236Gly) rs879254655
NM_000527.4(LDLR):c.743G>C (p.Cys248Ser) rs879254663
NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.4(LDLR):c.782G>A (p.Cys261Tyr) rs121908040
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.808T>C (p.Cys270Arg) rs879254682
NM_000527.4(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.865del (p.Cys289fs) rs879254696
NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.4(LDLR):c.924A>T (p.Glu308Asp) rs1057519664
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.4(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.4(LDLR):c.940+1G>A rs879254729
NM_000527.4(LDLR):c.941-2A>G rs112366278
NM_000527.4(LDLR):c.961_963AAC[1] (p.Asn322del) rs879254741
NM_000527.4(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.4(LDLR):c.967G>A (p.Gly323Ser) rs373869746
NM_000527.4(LDLR):c.985T>C (p.Cys329Arg) rs879254749
NM_000527.4(LDLR):c.985T>G (p.Cys329Gly) rs879254749
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) rs778738291

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