ClinVar Miner

List of variants in gene LDLR reported as pathogenic for Familial hypercholesterolemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 281
Download table as spreadsheet
HGVS dbSNP
FH Aarhus
NC_000019.10:g.(?_11089282)_(11089633_?)del
NC_000019.10:g.(?_11089282)_(11100355_?)del
NC_000019.10:g.(?_11089282)_(11131359_?)del
NC_000019.10:g.(?_11100203)_(11107534_?)del
NC_000019.10:g.(?_11100213)_(11102796_?)del
NC_000019.10:g.(?_11100213)_(11107528_?)del
NC_000019.10:g.(?_11102654)_(11102796_?)del
NC_000019.10:g.(?_11102654)_(11106697_?)del
NC_000019.10:g.(?_11102654)_(11107528_?)del
NC_000019.10:g.(?_11105200)_(11107534_?)del
NC_000019.10:g.(?_11105210)_(11107528_?)del
NC_000019.10:g.(?_11110613)_(11111650_?)del
NC_000019.10:g.(?_11110613)_(11117013_?)del
NC_000019.10:g.(?_11110613)_(11117013_?)dup
NC_000019.10:g.(?_11113268)_(11117013_?)dup
NC_000019.10:g.(?_11116074)_(11117018_?)del
NC_000019.10:g.(?_11116084)_(11116222_?)del
NC_000019.10:g.(?_11116084)_(11117013_?)del
NC_000019.10:g.(?_11116084)_(11117013_?)dup
NC_000019.10:g.(?_11116084)_(11120608_?)del
NC_000019.10:g.(?_11116084)_(11131359_?)del
NC_000019.10:g.(?_11116849)_(11117013_?)del
NC_000019.10:g.(?_11116849)_(11120608_?)del
NC_000019.10:g.(?_11120082)_(11120608_?)del
NC_000019.10:g.(?_11120086)_(11129676_?)dup
NC_000019.10:g.(?_11123154)_(11131359_?)del
NC_000019.10:g.(?_11123164)_(11131359_?)del
NC_000019.10:g.(?_11127998)_(11128095_?)del
NC_000019.10:g.(?_11127998)_(11131359_?)del
NC_000019.10:g.(?_11129503)_(11131359_?)del
NC_000019.10:g.11101929_11106607del
NC_000019.10:g.11120137_11124409del
NC_000019.9:g.(?_11230758)_(11240356_?)dup
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.1092C>A (p.Cys364Ter) rs1555804729
NM_000527.4(LDLR):c.1162del (p.His388fs) rs875989917
NM_000527.4(LDLR):c.1209C>A (p.Phe403Leu) rs777903106
NM_000527.4(LDLR):c.1358+2T>C rs193922567
NM_000527.4(LDLR):c.1439C>T (p.Ala480Val) rs1064794259
NM_000527.4(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1459_1472dup (p.Asp492fs) rs1600727715
NM_000527.4(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.4(LDLR):c.1731G>C (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1757C>G (p.Ser586Ter) rs1555806455
NM_000527.4(LDLR):c.1867dup (p.Ile623fs) rs1555807206
NM_000527.4(LDLR):c.191-1G>T rs879254433
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1964del (p.Phe655fs) rs879255089
NM_000527.4(LDLR):c.1987+2T>A rs1600742966
NM_000527.4(LDLR):c.2180_2184dup (p.Leu729fs) rs1555808044
NM_000527.4(LDLR):c.2270del (p.Pro757fs) rs1131692223
NM_000527.4(LDLR):c.249delinsGG (p.Ile83fs) rs1600704961
NM_000527.4(LDLR):c.30G>A (p.Trp10Ter) rs1568582652
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.4(LDLR):c.378del (p.Phe126fs) rs1555803213
NM_000527.4(LDLR):c.41T>A (p.Leu14Ter) rs1600683731
NM_000527.4(LDLR):c.505_511del (p.Asn169fs) rs1568594903
NM_000527.4(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.68-1G>A rs879254397
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.695-1G>A rs879254652
NM_000527.4(LDLR):c.832G>T (p.Gly278Ter) rs1600715039
NM_000527.4(LDLR):c.922G>T (p.Glu308Ter) rs879254721
NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs) rs387906304
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.5(LDLR):c.1013G>C (p.Cys338Ser)
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) rs879254758
NM_000527.5(LDLR):c.1023del (p.Asp342fs) rs1600720921
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) rs879254408
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1061-1G>C rs879254774
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg) rs746982741
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) rs879254792
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs) rs879254799
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg) rs879254814
NM_000527.5(LDLR):c.1187-10G>A
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.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.5(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1284del (p.Asn428fs)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
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.1326C>G (p.Tyr442Ter) rs879254865
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1357del (p.Ser453fs)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1382del (p.Gly461fs) rs1600727337
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1447del (p.Trp483fs)
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1490del (p.Thr497fs)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1647dup (p.Val550fs) rs1600732894
NM_000527.5(LDLR):c.1648del (p.Val550fs)
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1706-1G>T rs879254996
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) rs879255020
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.5(LDLR):c.1846-1G>A rs879255051
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) rs879254435
NM_000527.5(LDLR):c.196_197del (p.Val66fs) rs875989889
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) rs879254437
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs)
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) rs879255141
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.5(LDLR):c.2113del (p.Ala705fs)
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2390-1G>A rs879255193
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) rs875989894
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.313+2T>C rs793888517
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.314-2A>C rs879254470
NM_000527.5(LDLR):c.318del (p.Lys107fs) rs875989898
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.420G>T (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.469_470dup (p.Ser157fs)
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.5(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.560_570del (p.Leu187fs)
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.577dup (p.Asp193fs)
NM_000527.5(LDLR):c.579del (p.Asp193fs)
NM_000527.5(LDLR):c.581del (p.Ser194fs)
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer) rs879254619
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs)
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.664T>C (p.Cys222Arg) rs577934998
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630
NM_000527.5(LDLR):c.677_681dup (p.Glu228fs)
NM_000527.5(LDLR):c.680A>T (p.Asp227Val) rs879254638
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.682G>T (p.Glu228Ter) rs121908029
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg) rs746091400
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.694+1G>A rs879254646
NM_000527.5(LDLR):c.695-1G>T rs879254652
NM_000527.5(LDLR):c.699_708del (p.Thr235fs)
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.791del (p.Met264fs)
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
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.883del (p.Val295fs)
NM_000527.5(LDLR):c.901_911del (p.Asp301fs)
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030
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.932_933del (p.Lys311fs) rs879254723
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.941-1G>A rs879254735
NM_000527.5(LDLR):c.941-2A>G rs112366278
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.966del (p.Asn322fs)
NM_000527.5(LDLR):c.979del (p.His327fs)
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_001195798.2(LDLR):c.1008del (p.Gly335_Tyr336insTer) rs879254751
NM_001195798.2(LDLR):c.1392del (p.Tyr465fs) rs879254888
NM_001195798.2(LDLR):c.1476_1477CT[1] (p.Ser493fs) rs869025453
NM_001195798.2(LDLR):c.1868_1870TCA[1] (p.Ile624del)
NM_001195798.2(LDLR):c.2271del (p.Leu759fs)
NM_001195798.2(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_001195798.2(LDLR):c.2478del (p.Val827fs) rs747344293
NM_001195798.2(LDLR):c.6del (p.Trp4fs) rs875989888
NM_001195798.2(LDLR):c.820del (p.Thr274fs) rs751122998
NM_001195798.2(LDLR):c.996_1009delinsGCA (p.Lys333fs) rs1568600415
NM_001195799.2(LDLR):c.190+2431del rs764797225
NM_001195800.2(LDLR):c.314-1806_314-1804delinsCA rs879254637
NM_001195800.2(LDLR):c.314-1826del rs875989905
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-1973del rs879254552
NM_001195800.2(LDLR):c.314-2146_314-2142del rs1057516132
NM_001195803.2(LDLR):c.1606+150_1606+151del rs1600743301

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.