ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 282
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter) rs200793488 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.314-2A>C rs879254470 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.581del (p.Ser194fs) rs2077276693 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_000527.4(LDLR):c.-136C>T rs879254374
NM_000527.4(LDLR):c.1706_1715delATCTCCTCAG
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1046dup (p.Arg350fs) rs1555804545
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter) rs113669610
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser) rs879254801
NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe) rs879254801
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1164del (p.His388fs)
NM_000527.5(LDLR):c.1169del (p.Lys390fs)
NM_000527.5(LDLR):c.1186+1G>T rs730880131
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1255dup (p.Tyr419fs) rs2077408827
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.1284del (p.Asn428fs) rs2077409930
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer) rs2077410686
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg) rs773566855
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter) rs879254867
NM_000527.5(LDLR):c.132G>A (p.Trp44Ter) rs1555802287
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1361_1364del (p.Thr454fs)
NM_000527.5(LDLR):c.136_142del (p.Cys46fs)
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs) rs1555805360
NM_000527.5(LDLR):c.1428dup (p.Asp477fs) rs876657697
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1587-1G>A rs879254948
NM_000527.5(LDLR):c.1597T>A (p.Trp533Arg)
NM_000527.5(LDLR):c.1613_1622del (p.Thr538fs)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1706-1G>T rs879254996
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) rs879255020
NM_000527.5(LDLR):c.1808dup (p.Arg604fs) rs1555806526
NM_000527.5(LDLR):c.1810_1811del (p.Arg604fs)
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val) rs879255046
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1867dup (p.Ile623fs) rs1555807206
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter)
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.190+1G>A rs879254428
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter) rs2077524952
NM_000527.5(LDLR):c.193_202delinsGGACTTCA (p.Ser65fs)
NM_000527.5(LDLR):c.1955dup (p.Met652fs)
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) rs879254435
NM_000527.5(LDLR):c.1988-50_2007del
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.5(LDLR):c.1A>G (p.Met1Val) rs879254382
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter) rs879255109
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs) rs2077532372
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2068del (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter) rs369943481
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs)
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) rs879255141
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+1G>T rs145787161
NM_000527.5(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.5(LDLR):c.2167del (p.Glu723fs) rs879255153
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) rs1555808044
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs) rs879255159
NM_000527.5(LDLR):c.2207dup (p.Arg737fs) rs879255164
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs) rs1555808094
NM_000527.5(LDLR):c.2270del (p.Pro757fs) rs1131692223
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2274del (p.Leu759fs) rs1555808139
NM_000527.5(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2340del (p.Asn780fs)
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2390-2A>G rs767790696
NM_000527.5(LDLR):c.23T>A (p.Leu8Ter)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) rs879255212
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs) rs1600704961
NM_000527.5(LDLR):c.2502dup (p.Glu835Ter)
NM_000527.5(LDLR):c.2547+1G>T
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) rs777640882
NM_000527.5(LDLR):c.269A>C (p.Asp90Ala) rs771019366
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.283T>C (p.Cys95Arg) rs879254456
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.320del (p.Lys107fs)
NM_000527.5(LDLR):c.334_349dup (p.His117fs)
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter) rs875989899
NM_000527.5(LDLR):c.378del (p.Phe126fs) rs1555803213
NM_000527.5(LDLR):c.400T>A (p.Cys134Ser)
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr) rs879254514
NM_000527.5(LDLR):c.415_416del (p.Asp139fs)
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.41dup (p.Leu14fs) rs879254388
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser) rs875989901
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.5(LDLR):c.478T>G (p.Cys160Gly) rs879254540
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.5(LDLR):c.513del (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.513dup (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.5(LDLR):c.518del (p.Cys173fs) rs879254559
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.520G>T (p.Glu174Ter) rs777326720
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.557del (p.Gly186fs) rs879254573
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg) rs1057519655
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter) rs879254606
NM_000527.5(LDLR):c.648_665del (p.Asp217_Cys222del)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs) rs2077280444
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.5(LDLR):c.678del (p.Asp227fs)
NM_000527.5(LDLR):c.68-1G>C rs879254397
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg) rs746091400
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.693C>G (p.Cys231Trp) rs121908035
NM_000527.5(LDLR):c.694+1G>T rs879254646
NM_000527.5(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.695-1G>C
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.779_782del (p.Asp260fs) rs1600713742
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr) rs875989907
NM_000527.5(LDLR):c.818-1G>A rs879254688
NM_000527.5(LDLR):c.818-2A>G
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.825_826del (p.Cys276fs) rs879254691
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.966del (p.Asn322fs) rs2077361078
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.5(LDLR):c.979del (p.His327fs) rs2077361581
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)

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