ClinVar Miner

List of variants in gene LDLR reported by Fundacion Hipercolesterolemia Familiar

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Gene type:
ClinVar version:
Total variants: 320
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HGVS dbSNP
FH Bologna 2
FH London 1
FH Vancouver 4
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-136C>G rs879254374
NM_000527.4(LDLR):c.-140C>G rs875989887
NM_000527.4(LDLR):c.-155_-154delinsTTCTGCAAACTCCT rs879254365
NM_000527.4(LDLR):c.-228G>C rs376713337
NM_000527.4(LDLR):c.-23A>C rs763282380
NM_000527.4(LDLR):c.-268G>T rs17249134
NM_000527.4(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.4(LDLR):c.1008C>A (p.Tyr336Ter) rs767024374
NM_000527.4(LDLR):c.1013G>T (p.Cys338Phe) rs879254754
NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.4(LDLR):c.1046dup (p.Arg350fs) rs1555804545
NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter) rs769737896
NM_000527.4(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1061-?_1586+?del
NM_000527.4(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.4(LDLR):c.1067del (p.Asp356fs) rs879254778
NM_000527.4(LDLR):c.108del (p.Asp36fs) rs879254409
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) 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.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1135T>C (p.Cys379Arg) rs879254803
NM_000527.4(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.4(LDLR):c.114dup (p.Cys39fs) rs879254410
NM_000527.4(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.117del (p.Lys38_Cys39insTer) rs879254412
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1187-?_1586+?del
NM_000527.4(LDLR):c.1187-?_1845+?del
NM_000527.4(LDLR):c.118A>G (p.Ile40Val) rs765969972
NM_000527.4(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.4(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.4(LDLR):c.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.4(LDLR):c.1208del (p.Phe403fs) rs879254832
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.4(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.131G>T (p.Trp44Leu) rs267607213
NM_000527.4(LDLR):c.1326C>G (p.Tyr442Ter) rs879254865
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1329G>A (p.Trp443Ter) rs879254867
NM_000527.4(LDLR):c.1336del (p.Leu446fs) rs879254868
NM_000527.4(LDLR):c.1342C>T (p.Gln448Ter) rs879254871
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1359-?_1586+?del
NM_000527.4(LDLR):c.1361C>A (p.Thr454Asn) rs879254879
NM_000527.4(LDLR):c.140_153del (p.Asp47fs) rs1555802291
NM_000527.4(LDLR):c.1423_1424delinsA (p.Ala475fs) rs879254896
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1434del (p.Leu479fs) rs879254899
NM_000527.4(LDLR):c.1436T>C (p.Leu479Pro) rs879254900
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1498_1499del (p.Val500fs) rs879254923
NM_000527.4(LDLR):c.1502dup (p.Asp502fs) rs879254924
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1587-5_1618del rs1555805930
NM_000527.4(LDLR):c.1587-?_1845+?del
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1587-?_2311+?del
NM_000527.4(LDLR):c.1596C>G (p.Tyr532Ter) rs1555805947
NM_000527.4(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.4(LDLR):c.1607G>A (p.Trp536Ter) rs879254957
NM_000527.4(LDLR):c.1609G>T (p.Gly537Ter) rs879254958
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1661C>T (p.Ser554Leu) rs879254976
NM_000527.4(LDLR):c.1664T>C (p.Leu555Pro) rs879254978
NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.4(LDLR):c.1705+1del rs879254992
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1706-2A>C rs878854027
NM_000527.4(LDLR):c.1706-?_1845+?del
NM_000527.4(LDLR):c.1706-?_2311+?del
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.4(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.4(LDLR):c.1749C>G (p.His583Gln) rs879255009
NM_000527.4(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.4(LDLR):c.1757C>G (p.Ser586Ter) rs1555806455
NM_000527.4(LDLR):c.1765G>T (p.Asp589Tyr) rs201971888
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1778del (p.Gly593fs) rs875989931
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.1800G>C (p.Glu600Asp) rs764104777
NM_000527.4(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.4(LDLR):c.1815_1825del (p.Ala606fs) rs879255032
NM_000527.4(LDLR):c.1845+1G>C rs879255049
NM_000527.4(LDLR):c.1846-?_1987+?del
NM_000527.4(LDLR):c.1846-?_2311+?del
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.4(LDLR):c.1868_1870TCA[1] (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1878delA (p.E626Efs*38) rs1057516134
NM_000527.4(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.4(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.191-2delinsCT rs879254432
NM_000527.4(LDLR):c.191-?_313+?dup
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
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.1965C>G (p.Phe655Leu) rs879255090
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.1981C>A (p.Pro661Thr) rs1182317785
NM_000527.4(LDLR):c.1988-2A>T rs879255101
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2001T>A (p.Cys667Ter) rs879255109
NM_000527.4(LDLR):c.2011del (p.Thr671fs) rs1555807356
NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.4(LDLR):c.2032C>T (p.Gln678Ter) rs879255114
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2054C>A (p.Pro685Gln) rs28942084
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2063dup (p.Asn688fs) rs879255128
NM_000527.4(LDLR):c.2085_2103del (p.Ala697fs) rs879255133
NM_000527.4(LDLR):c.2086T>C (p.Cys696Arg) rs1555807435
NM_000527.4(LDLR):c.2093G>A (p.Cys698Tyr) rs879255136
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2141-?_2311+?del
NM_000527.4(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2184del (p.Arg728fs) rs879255157
NM_000527.4(LDLR):c.2207dup (p.Arg737fs) rs879255164
NM_000527.4(LDLR):c.2266del (p.Thr756fs) rs879255169
NM_000527.4(LDLR):c.2270del (p.Pro757fs) rs1131692223
NM_000527.4(LDLR):c.2279C>T (p.Thr760Ile) rs1555808147
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2282_2309del (p.Thr761fs) rs1555808143
NM_000527.4(LDLR):c.2311+2T>G rs879255176
NM_000527.4(LDLR):c.2312-?_*2514del
NM_000527.4(LDLR):c.2312-?_2389+?del
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.232del (p.Arg78fs) rs879254442
NM_000527.4(LDLR):c.2360T>A (p.Val787Glu) rs879255182
NM_000527.4(LDLR):c.2375T>C (p.Ile792Thr) rs764493597
NM_000527.4(LDLR):c.2389+3A>C rs879255189
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2390-1G>A rs879255193
NM_000527.4(LDLR):c.2390-1G>C rs879255193
NM_000527.4(LDLR):c.2390-2A>G rs767790696
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.2399_2403delinsGGGT (p.Val800fs) rs879255198
NM_000527.4(LDLR):c.240C>A (p.Asn80Lys) rs879254444
NM_000527.4(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2439G>A (p.Trp813Ter) rs121908032
NM_000527.4(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2544dup (p.Ser849fs) rs879255222
NM_000527.4(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.4(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer) rs879254453
NM_000527.4(LDLR):c.267C>G (p.Cys89Trp) rs777640882
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.4(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+1G>C rs112029328
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.313+5G>A rs879254467
NM_000527.4(LDLR):c.314-?_940+?del
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.338_353del (p.Glu113fs) rs879254480
NM_000527.4(LDLR):c.33_36dup (p.Ala13fs) rs879254387
NM_000527.4(LDLR):c.346T>C (p.Cys116Arg) rs879254482
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.362_376del (p.Cys121_Gln125del) rs1555803186
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.4(LDLR):c.429C>A (p.Cys143Ter) rs199774121
NM_000527.4(LDLR):c.440_450dup (p.Ala151fs) rs1555803254
NM_000527.4(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.4(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.4(LDLR):c.451_453del (p.Ala151del) rs879254531
NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.4(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.4(LDLR):c.470G>A (p.Ser157Asn) rs1555803280
NM_000527.4(LDLR):c.479G>T (p.Cys160Phe) rs879254541
NM_000527.4(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.4(LDLR):c.48C>A (p.Leu16=) rs565675103
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.513dup (p.Asp172fs) rs879254552
NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.4(LDLR):c.518del (p.Cys173fs) rs879254559
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.532G>A (p.Asp178Asn) rs879254565
NM_000527.4(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.4(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.4(LDLR):c.564C>A (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.593C>A (p.Ser198Ter) rs748672083
NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
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.661G>T (p.Asp221Tyr) rs875989906
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.662A>T (p.Asp221Val) rs373822756
NM_000527.4(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.4(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.4(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.4(LDLR):c.67+1G>T rs762417023
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.671_675del (p.Asp224fs) rs1555803455
NM_000527.4(LDLR):c.672_683dup (p.Asp224_Asp227dup) rs1555803414
NM_000527.4(LDLR):c.672_686del (p.Asp224_Glu228del) rs1555803439
NM_000527.4(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.4(LDLR):c.677C>G (p.Ser226Cys) rs879254636
NM_000527.4(LDLR):c.681_682insTCAGGGAAACCCGACTGC (p.Glu228_Glu229insSerGlyLysProAspCys) rs1555803471
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682delinsTCAAGGAAACCCGACTGCA (p.Glu228delinsSerArgLysProAspCysLys) rs879254641
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.706T>A (p.Cys236Ser) rs879254655
NM_000527.4(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.800A>C (p.Glu267Ala) rs879254680
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.817+2T>G rs879254686
NM_000527.4(LDLR):c.818-?_940+?del
NM_000527.4(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.4(LDLR):c.835C>T (p.Pro279Ser) rs1555803827
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.866G>A (p.Cys289Tyr) rs1555803865
NM_000527.4(LDLR):c.874del (p.Leu292fs) rs879254700
NM_000527.4(LDLR):c.884del (p.Val295fs) rs879254705
NM_000527.4(LDLR):c.889A>C (p.Asn297His) rs879254709
NM_000527.4(LDLR):c.890A>C (p.Asn297Thr) rs1555803887
NM_000527.4(LDLR):c.890A>G (p.Asn297Ser) rs1555803887
NM_000527.4(LDLR):c.895G>A (p.Ala299Thr) rs879254711
NM_000527.4(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) rs767618089
NM_000527.4(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.4(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.4(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.4(LDLR):c.916_919dup (p.Asp307fs) rs879254718
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.919G>T (p.Asp307Tyr) rs879254719
NM_000527.4(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.4(LDLR):c.91_104del (p.Glu31fs) rs1555802259
NM_000527.4(LDLR):c.928dup (p.Ile310fs) rs1555803912
NM_000527.4(LDLR):c.934G>T (p.Glu312Ter) rs879254725
NM_000527.4(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) rs875989911
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1186+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.4(LDLR):c.941-?_1586+?dup
NM_000527.4(LDLR):c.941-?_1705+?dup
NM_000527.4(LDLR):c.941-?_1845+?del
NM_000527.4(LDLR):c.941-?_1845+?dup
NM_000527.4(LDLR):c.953G>T (p.Cys318Phe) rs879254739
NM_000527.4(LDLR):c.969del (p.Gly324fs) rs879254744
NM_000527.4(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.4(LDLR):c.97C>T (p.Gln33Ter) rs121908024
NM_000527.4(LDLR):c.987C>A (p.Cys329Ter) rs1555804467
NM_000527.4(LDLR):c.987C>G (p.Cys329Trp) rs1555804467
NM_000527.4(LDLR):c.9del (p.Trp4fs) rs879254384
NM_000527.4:c.-30-?_190+?dup
NM_000527.4:c.-30-?_313+?dup
NM_000527.4:c.191-?_2583+?del
NM_000527.4:c.2390-?_2583+?del
NM_000527.4:c.2548-?_2583+?del
NM_000527.4:c.314-?_2583+?del
c.(?_-187)_(190+1_191-1)del

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