ClinVar Miner

List of variants in gene LDLR reported by Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP
FH Bologna 2
NM_000527.4(LDLR):c.*13A>G rs72658871
NM_000527.4(LDLR):c.*52G>A rs14158
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-136C>T rs879254374
NM_000527.4(LDLR):c.-138T>C rs879254372
NM_000527.4(LDLR):c.-138delT rs387906307
NM_000527.4(LDLR):c.-139C>G rs879254371
NM_000527.4(LDLR):c.-13A>G rs376011618
NM_000527.4(LDLR):c.-140C>T rs875989887
NM_000527.4(LDLR):c.-142C>T rs879254370
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-208A>T rs879254361
NM_000527.4(LDLR):c.-215A>G rs879254360
NM_000527.4(LDLR):c.-217C>T rs17249141
NM_000527.4(LDLR):c.-36T>G rs879254378
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1033C>T (p.Gln345Ter) rs875989913
NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter) rs769737896
NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+1G>A rs879254771
NM_000527.4(LDLR):c.1060+7= rs2738442
NM_000527.4(LDLR):c.1061-1G>C rs879254774
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1061-?_1845+?del
NM_000527.4(LDLR):c.1085del (p.Asp362fs) rs879254786
NM_000527.4(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.4(LDLR):c.116_117delinsAA (p.Cys39Ter) rs879254411
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.4(LDLR):c.1186+1G>A rs730880131
NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.4(LDLR):c.1187-2A>G rs879254823
NM_000527.4(LDLR):c.1216C>A (p.Arg406=) rs121908043
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.1268T>C (p.Ile423Thr) rs879254849
NM_000527.4(LDLR):c.1279A>C (p.Arg427=) rs371355878
NM_000527.4(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1372_1373AG[1] (p.Arg458fs) rs879254884
NM_000527.4(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.4(LDLR):c.1413A>G (p.Arg471=) rs5930
NM_000527.4(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) 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.1477_1479delinsAGAGACA (p.Ser493fs) rs879254919
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+2T>A rs879254945
NM_000527.4(LDLR):c.1586+2T>C rs879254945
NM_000527.4(LDLR):c.1587-?_1845+?del
NM_000527.4(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.4(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1640_1652delinsAGCGTCATCTTCCTGAC (p.Leu547fs) rs879254967
NM_000527.4(LDLR):c.1659_1661delinsATACTTTCA (p.Tyr553_Ser554delinsTer) rs879254975
NM_000527.4(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1705+1G>C rs875989926
NM_000527.4(LDLR):c.1705+1G>T rs875989926
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1706-2A>T rs878854027
NM_000527.4(LDLR):c.1706-69G>T rs7259278
NM_000527.4(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.4(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1731G>A (p.Trp577Ter) rs875989928
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1773C>T (p.Asn591=) rs688
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1830_1839del (p.Ala612fs) rs886039834
NM_000527.4(LDLR):c.1845+11C>G rs370245937
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1845+1del rs879255048
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.4(LDLR):c.1891_2311+1062del (p.(?))
NM_000527.4(LDLR):c.190+2_190+3dup rs879254429
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.1911C>T (p.Ser637=) rs373570349
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1934dup (p.Asn645fs) rs879255076
NM_000527.4(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.4(LDLR):c.1988-1G>A rs1555807335
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.4(LDLR):c.2077_2078del (p.Lys693fs) rs879255131
NM_000527.4(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2140+86C>G rs587776886
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2199_2200CA[1] (p.Thr734fs) rs879255163
NM_000527.4(LDLR):c.2232A>G (p.Arg744=) rs5927
NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.4(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.4(LDLR):c.2311+1G>A rs879255175
NM_000527.4(LDLR):c.2312-?_*2514del
NM_000527.4(LDLR):c.2389+1G>T rs879255186
NM_000527.4(LDLR):c.2389+46C>T rs2738460
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.4(LDLR):c.2390-16G>A rs183496025
NM_000527.4(LDLR):c.2392_2394CTC[1] (p.Leu799del) rs879255195
NM_000527.4(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.4(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.4(LDLR):c.2399_2403delinsGGGT (p.Val800fs) rs879255198
NM_000527.4(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.4(LDLR):c.2547+1G>A rs879255224
NM_000527.4(LDLR):c.2548-42A>G rs6413504
NM_000527.4(LDLR):c.2548-80G>A rs2116897
NM_000527.4(LDLR):c.2575G>A (p.Val859Met) rs202049029
NM_000527.4(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+1G>C rs112029328
NM_000527.4(LDLR):c.313+1G>T rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+6T>C rs879254468
NM_000527.4(LDLR):c.313_313+1del rs875989896
NM_000527.4(LDLR):c.314-1G>A rs879254471
NM_000527.4(LDLR):c.314-50T>C rs10423288
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.365_366TC[2] (p.Arg124fs) rs879254496
NM_000527.4(LDLR):c.407A>T (p.Asp136Val) rs879254516
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.4(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.4(LDLR):c.618_638del (p.Gly207_Ser213del) rs886039830
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.68-1G>C rs879254397
NM_000527.4(LDLR):c.68-?_313+?del
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
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.691T>G (p.Cys231Gly) rs746091400
NM_000527.4(LDLR):c.693C>G (p.Cys231Trp) rs121908035
NM_000527.4(LDLR):c.724C>T (p.Gln242Ter) rs879254658
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.818-2A>G rs879254687
NM_000527.4(LDLR):c.818-3C>G rs886039831
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs) rs387906304
NM_000527.4(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.4(LDLR):c.940+2T>C rs875989912
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_001195798.2(LDLR):c.1017dup (p.Cys340fs) rs879254757
NM_001195798.2(LDLR):c.1054T>A (p.Cys352Ser) rs879254769
NM_001195798.2(LDLR):c.105_110del (p.Asp36_Gly37del) rs1555802270
NM_001195798.2(LDLR):c.1069_1086dup (p.Glu357_Asp362dup) rs879254780
NM_001195798.2(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_001195798.2(LDLR):c.1130G>T (p.Cys377Phe) rs879254801
NM_001195798.2(LDLR):c.1178del (p.Lys393fs) rs879254815
NM_001195798.2(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_001195798.2(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_001195798.2(LDLR):c.1363del (p.Gln455fs) rs879254881
NM_001195798.2(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_001195798.2(LDLR):c.1383C>T (p.Gly461=) rs764929176
NM_001195798.2(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_001195798.2(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_001195798.2(LDLR):c.1434G>A (p.Gly478=) rs886039832
NM_001195798.2(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_001195798.2(LDLR):c.1499T>C (p.Val500Ala) rs886039833
NM_001195798.2(LDLR):c.1618_1620del (p.Ala540del) rs879254961
NM_001195798.2(LDLR):c.1633G>T (p.Gly545Trp) rs879254965
NM_001195798.2(LDLR):c.1689dup (p.Asn564fs) rs879254988
NM_001195798.2(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_001195798.2(LDLR):c.1756del (p.Ser586fs) rs879255013
NM_001195798.2(LDLR):c.1757C>A (p.Ser586Ter) rs1555806455
NM_001195798.2(LDLR):c.1802A>T (p.Asp601Val) rs879255027
NM_001195798.2(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_001195798.2(LDLR):c.1907G>T (p.Gly636Val) rs879255072
NM_001195798.2(LDLR):c.1936del (p.Leu646fs) rs879255078
NM_001195798.2(LDLR):c.1942T>C (p.Ser648Pro) rs879255079
NM_001195798.2(LDLR):c.1960C>T (p.Leu654Phe) rs879255087
NM_001195798.2(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_001195798.2(LDLR):c.2150C>G (p.Ala717Gly) rs879255150
NM_001195798.2(LDLR):c.2291T>C (p.Ile764Thr) rs759440817
NM_001195798.2(LDLR):c.2374A>T (p.Ile792Phe) rs761123215
NM_001195798.2(LDLR):c.2384C>A (p.Pro795His) rs879255184
NM_001195798.2(LDLR):c.2385del (p.Ile796fs) rs879255185
NM_001195798.2(LDLR):c.2399T>A (p.Val800Asp) rs879255199
NM_001195798.2(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_001195798.2(LDLR):c.2413G>A (p.Gly805Arg) rs879255204
NM_001195798.2(LDLR):c.28T>A (p.Trp10Arg) rs879254386
NM_001195798.2(LDLR):c.77_78del (p.Arg26fs) rs879254400
NM_001195798.2(LDLR):c.986G>T (p.Cys329Phe) rs761954844
NM_001195799.2(LDLR):c.190+2364dup rs879254443
NM_001195799.2(LDLR):c.190+2420G>C rs750474121
NM_001195799.2(LDLR):c.191-2437_191-2434del rs879254463
NM_001195800.2(LDLR):c.314-1795T>C rs746091400
NM_001195800.2(LDLR):c.314-1811del rs879254633
NM_001195800.2(LDLR):c.314-1818_314-1805dup rs1555803424
NM_001195800.2(LDLR):c.314-1820C>G rs756613387
NM_001195800.2(LDLR):c.314-1825G>T rs875989906
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-1854_314-1852del rs879254602
NM_001195800.2(LDLR):c.314-1855C>G rs771917370
NM_001195800.2(LDLR):c.314-1972G>T rs879254554
NM_001195800.2(LDLR):c.314-2013C>G rs763998635
NM_001195800.2(LDLR):c.314-2046C>T rs879254524
NM_001195800.2(LDLR):c.314-2062_314-2056del rs879254521
NM_001195800.2(LDLR):c.314-2104_314-2101del rs879254504
NM_001195800.2(LDLR):c.314-2117_314-2093del rs879254497
NM_001195800.2(LDLR):c.314-754C>A rs879254671
NM_001195800.2(LDLR):c.314-817_314-731del rs1555803644
NM_001195803.2(LDLR):c.1606+164del rs879255112
NM_001195803.2(LDLR):c.1606+202C>T rs2569548
NM_001195803.2(LDLR):c.1606+241del rs879255135
Single allele
c.(1186+1_1187-1)_(2140+1_2141-1)dup
c.(1845+1_1846-1)_(*2514_?)del
c.(2311+1_2312-1)_*807del
c.(817+1_818-1)_(1186+1_1187-1)del
c.(?_-187)_(190+1_191-1)del
c.(?_-187)_(67+1_68-1)del
c.(?_-187)_(940+1_941-1)del

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