ClinVar Miner

List of variants studied for hyperlipoproteinemia by Robarts Research Institute, Western University

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.11904-7C>T rs12720851 0.03622
NM_000384.3(APOB):c.538-9C>T rs1800478 0.03349
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554 0.02896
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02288
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558 0.02176
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847 0.01812
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852 0.01624
NM_000384.3(APOB):c.3509-10G>A rs12720770 0.01624
NM_000384.3(APOB):c.1353-12C>T rs76202659 0.01423
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=) rs28362262 0.00856
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=) rs28362285 0.00518
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059 0.00396
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672 0.00387
NM_000384.3(APOB):c.6261C>A (p.Thr2087=) rs61744855 0.00366
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_174936.4(PCSK9):c.1354+9G>T rs72646516 0.00337
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087 0.00247
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083 0.00242
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698 0.00212
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480 0.00210
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733 0.00177
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760 0.00166
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198 0.00162
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339 0.00139
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
NM_000384.3(APOB):c.3509-11C>T rs200768300 0.00091
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln) rs143275858 0.00078
NM_000384.3(APOB):c.9477G>A (p.Lys3159=) rs13306196 0.00073
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys) rs145886902 0.00067
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_000384.3(APOB):c.13680T>C (p.Thr4560=) rs72654427 0.00064
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097 0.00063
NM_000384.3(APOB):c.7152T>C (p.Val2384=) rs72653090 0.00041
NM_000384.3(APOB):c.9855C>T (p.Ile3285=) rs72654403 0.00041
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751 0.00034
NM_174936.4(PCSK9):c.1864-13C>T rs147470944 0.00033
NM_174936.4(PCSK9):c.336G>A (p.Leu112=) rs79805678 0.00033
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His) rs186299244 0.00027
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys) rs574725520 0.00025
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_174936.4(PCSK9):c.993C>T (p.Pro331=) rs376753957 0.00022
NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile) rs146247063 0.00019
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341 0.00019
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_000384.3(APOB):c.13302C>T (p.Ser4434=) rs144040999 0.00013
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000384.3(APOB):c.8877G>A (p.Leu2959=) rs765899256 0.00012
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr) rs780170292 0.00011
NM_000384.3(APOB):c.11965C>T (p.Arg3989Cys) rs150713761 0.00010
NM_000384.3(APOB):c.12318A>G (p.Arg4106=) rs375795401 0.00008
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp) rs141593516 0.00008
NM_000384.3(APOB):c.10508C>T (p.Ser3503Leu) rs375284245 0.00007
NM_174936.4(PCSK9):c.609C>T (p.Thr203=) rs200856421 0.00007
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000384.3(APOB):c.11934C>T (p.Ile3978=) rs539824713 0.00006
NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn) rs138005301 0.00006
NM_000384.3(APOB):c.5863G>A (p.Val1955Met) rs368970025 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=) rs146924245 0.00006
NM_000384.3(APOB):c.10371C>T (p.Ser3457=) rs139891446 0.00005
NM_000384.3(APOB):c.13452G>A (p.Thr4484=) rs200374122 0.00005
NM_000384.3(APOB):c.2950G>A (p.Ala984Thr) rs752149683 0.00005
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr) rs371224295 0.00005
NM_000527.5(LDLR):c.2427A>G (p.Leu809=) rs147191787 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln) rs754143671 0.00005
NM_000384.3(APOB):c.1061A>G (p.Glu354Gly) rs149227065 0.00004
NM_000384.3(APOB):c.11509G>T (p.Ala3837Ser) rs1389480980 0.00004
NM_000384.3(APOB):c.3656C>T (p.Thr1219Ile) rs768005049 0.00004
NM_000384.3(APOB):c.7330C>T (p.Arg2444Cys) rs754565622 0.00004
NM_000384.3(APOB):c.9694A>G (p.Lys3232Glu) rs544521341 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr) rs367606156 0.00004
NM_000384.3(APOB):c.218C>A (p.Ala73Asp) rs377171241 0.00003
NM_000384.3(APOB):c.3096C>G (p.Thr1032=) rs757565957 0.00003
NM_000384.3(APOB):c.3851G>A (p.Arg1284Gln) rs372154910 0.00003
NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro) rs376974746 0.00003
NM_000384.3(APOB):c.889C>T (p.Arg297Cys) rs766376456 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 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_174936.4(PCSK9):c.1948G>A (p.Val650Ile) rs767706622 0.00003
NM_000384.3(APOB):c.5690G>A (p.Arg1897His) rs199510126 0.00002
NM_000384.3(APOB):c.690C>A (p.Gly230=) rs151096846 0.00002
NM_000384.3(APOB):c.8469T>C (p.Ala2823=) rs531216195 0.00002
NM_000384.3(APOB):c.9095C>A (p.Thr3032Asn) rs754332101 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe) rs1279368649 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_174936.4(PCSK9):c.1671C>T (p.His557=) rs72646521 0.00002
NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe) rs571485213 0.00001
NM_000384.3(APOB):c.1198C>T (p.Arg400Cys) rs778866803 0.00001
NM_000384.3(APOB):c.13160A>T (p.Glu4387Val) rs150412734 0.00001
NM_000384.3(APOB):c.1617+7T>C rs374552390 0.00001
NM_000384.3(APOB):c.3051C>T (p.Ser1017=) rs558838327 0.00001
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr) rs149357946 0.00001
NM_000384.3(APOB):c.5616C>T (p.Ile1872=) rs1487486971 0.00001
NM_000384.3(APOB):c.5646C>G (p.Ser1882Arg) rs1012783946 0.00001
NM_000384.3(APOB):c.6943G>A (p.Glu2315Lys) rs1223711938 0.00001
NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys) rs748318755 0.00001
NM_000527.5(LDLR):c.1060+2T>G rs774069731 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1587-11C>T rs201957233 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2088C>T (p.Cys696=) rs112954220 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856 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.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352 0.00001
GRCh37/hg19 19p13.2(chr19:11210898-11218191)x3
GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1
GRCh38/hg38 19p13.2(chr19:11089362-11100346)x1
GRCh38/hg38 19p13.2(chr19:11089362-11107515)x1
GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1
GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1
GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1
GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1
GRCh38/hg38 19p13.2(chr19:11110650-11110651)x3
GRCh38/hg38 19p13.2(chr19:11116092-11116093)x3
GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1
GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1
GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1
GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1
GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.10367C>T (p.Ser3456Phe) rs1217782046
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10740C>T (p.Asn3580=) rs150312765
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.122-6C>T rs1206711447
NM_000384.3(APOB):c.12310C>A (p.Leu4104Met) rs199668351
NM_000384.3(APOB):c.12343G>A (p.Val4115Ile) rs765681925
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13116A>G (p.Gln4372=) rs755500550
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1402A>G (p.Asn468Asp) rs886804701
NM_000384.3(APOB):c.1493C>T (p.Thr498Ile) rs758928147
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1618-13C>T rs1553386146
NM_000384.3(APOB):c.1734C>T (p.Val578=) rs1553386125
NM_000384.3(APOB):c.1773C>T (p.Asn591=) rs1553386116
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.2308G>A (p.Val770Ile) rs1415675587
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3122-6G>A rs72653071
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.35_41del (p.Leu12fs) rs1553301471
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.37_42del (p.Ala13_Leu14del) rs1553301469
NM_000384.3(APOB):c.42_43del (p.Pro15fs) rs1553301466
NM_000384.3(APOB):c.42del (p.Pro15fs) rs1553301468
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5715G>A (p.Met1905Ile) rs754036439
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6815A>G (p.His2272Arg) rs1553383649
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.689G>T (p.Gly230Val) rs755661819
NM_000384.3(APOB):c.7296C>T (p.Tyr2432=) rs1553383536
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
NM_000384.3(APOB):c.830G>T (p.Gly277Val) rs1057516137
NM_000384.3(APOB):c.900T>C (p.Gly300=) rs549628916
NM_000384.3(APOB):c.9387T>G (p.Pro3129=) rs769437017
NM_000384.3(APOB):c.9471C>T (p.Gly3157=) rs746031928
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs) rs879254829
NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp) rs879254847
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1358+2T>C rs193922567
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) rs1057516128
NM_000527.5(LDLR):c.1418T>G (p.Ile473Ser) rs879254895
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp) rs144614838
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs) rs879254922
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586+12C>T
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) rs879254421
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1693_1696del (p.Gly565fs) rs1555806088
NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs) rs774615547
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1744C>G (p.Leu582Val) rs1131692216
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1845+15C>A rs759867686
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2092T>G (p.Cys698Gly) rs1555807442
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2178del (p.Val727fs) rs879255156
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.233del (p.Arg78fs) rs1057516129
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000527.5(LDLR):c.2389+2T>G rs879255188
NM_000527.5(LDLR):c.2390-2A>G rs767790696
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.330C>G (p.Ser110=) rs768109825
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.340_344del (p.Phe114fs) rs1057516132
NM_000527.5(LDLR):c.370dup (p.Arg124fs) rs1057516133
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.5(LDLR):c.457T>G (p.Phe153Val) rs879254532
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.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
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.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.571C>T (p.Gln191Ter)
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.655_657del (p.Gly219del) rs879254616
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.68-1G>A rs879254397
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.905del (p.Cys302fs) rs1057516130
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) rs879254716
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.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-4G>A
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1537A>G (p.Asn513Asp) rs1057516136
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln) rs372165281
Single allele

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