ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge

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ClinVar version:
Total variants: 398
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) rs540796 0.82761
NM_174936.4(PCSK9):c.1355-56C>T rs585131 0.82748
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_174936.4(PCSK9):c.1681+64G>A rs483462 0.62233
NM_174936.4(PCSK9):c.799+64C>A rs494198 0.60378
NM_174936.4(PCSK9):c.799+3A>G rs2495477 0.49156
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000527.5(LDLR):c.2548-42A>G rs6413504 0.39303
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.2548-80G>A rs2116897 0.22593
NM_000527.5(LDLR):c.*52G>A rs14158 0.22552
NM_174936.4(PCSK9):c.657+114C>A rs7552350 0.16742
NM_174936.4(PCSK9):c.657+76C>A rs11806638 0.13140
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_174936.4(PCSK9):c.-64C>T rs45448095 0.09487
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_000527.5(LDLR):c.314-50T>C rs10423288 0.06015
NM_174936.4(PCSK9):c.1681+63C>T rs45439391 0.05146
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_174936.4(PCSK9):c.658-36G>A rs11800265 0.03888
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700 0.03627
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_174936.4(PCSK9):c.*75C>T rs28362287 0.02377
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558 0.02176
NM_000384.3(APOB):c.82+131A>G rs12720761 0.01773
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.-287G>A rs72658888 0.00941
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000384.3(APOB):c.1352+60C>A rs12714224 0.00793
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.720C>T (p.Gly240=) rs41297883 0.00500
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_000527.5(LDLR):c.*13A>G rs72658871 0.00255
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_000384.3(APOB):c.905-16A>C rs12720810 0.00172
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164 0.00071
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_174936.4(PCSK9):c.996+51A>G rs45573036 0.00036
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_174936.4(PCSK9):c.-331C>A rs778796405 0.00026
NM_174936.4(PCSK9):c.799+26C>T rs201405859 0.00025
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp) rs200583769 0.00024
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_174936.4(PCSK9):c.1181-39C>T rs372353877 0.00006
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_000384.3(APOB):c.1829A>G (p.Asp610Gly) rs199646491 0.00003
NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr) rs531273434 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1383C>T (p.Gly461=) rs764929176 0.00003
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_174936.4(PCSK9):c.1863+6G>A rs568853401 0.00003
NM_174936.4(PCSK9):c.321C>T (p.Tyr107=) rs886039840 0.00003
NC_000019.10:g.11089410C>G rs879254371 0.00002
NM_000384.3(APOB):c.10519C>T (p.Arg3507Trp) rs754264874 0.00002
NM_000384.3(APOB):c.5690G>A (p.Arg1897His) rs199510126 0.00002
NM_000527.5(LDLR):c.-13A>G rs376011618 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser) rs149489325 0.00002
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000384.3(APOB):c.1280G>A (p.Arg427Gln) rs755407886 0.00001
NM_000384.3(APOB):c.148C>T (p.Arg50Trp) rs749903604 0.00001
NM_000384.3(APOB):c.3425C>T (p.Ser1142Leu) rs199859104 0.00001
NM_000384.3(APOB):c.403A>G (p.Ile135Val) rs769296548 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.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 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.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_174936.4(PCSK9):c.-8T>C rs886039837 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.1681+39C>T rs886039850 0.00001
NM_174936.4(PCSK9):c.1681+50T>C rs758072703 0.00001
FH Bologna 2
FH French Canadian 5
NC_000019.10:g.11089334A>G rs879254360
NC_000019.10:g.11089341A>T rs879254361
NC_000019.10:g.11089407C>T rs879254370
NC_000019.10:g.11089409C>T rs875989887
NC_000019.10:g.11089411T>C rs879254372
NC_000019.10:g.11089411del rs387906307
NC_000019.10:g.11089413C>T rs879254374
NC_000019.10:g.11089414C>G
NC_000019.10:g.11089448T>C rs747068848
NG_009060.1(LDLR):g.15965TG[3]
NG_009060.1(LDLR):g.4976CTC[2] rs1270618112
NM_000384.3(APOB):c.-115C>G rs1800480
NM_000384.3(APOB):c.-18G>A rs886039825
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.3(APOB):c.10193C>T (p.Ala3398Val) rs1367798781
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10602C>A (p.Gly3534=) rs886039828
NM_000384.3(APOB):c.10629C>G (p.Asn3543Lys) rs1553382944
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.12460G>A (p.Glu4154Lys) rs767587977
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13158del (p.Glu4387fs) rs886039829
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1580C>T (p.Ala527Val) rs886039827
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000384.3(APOB):c.538-8C>T rs886039826
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000527.4(LDLR):c.1061-?_1845+?del
NM_000527.4(LDLR):c.1587-?_1845+?del
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.1988-?_2140+?del
NM_000527.4(LDLR):c.2312-?_*2514del
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.-36T>G rs879254378
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.5(LDLR):c.1017dup (p.Cys340fs) rs879254757
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) rs879254769
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.105_110del (p.Asp36_Gly37del) rs1555802270
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+1G>A rs879254771
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1069_1086dup (p.Glu357_Asp362dup) rs879254780
NM_000527.5(LDLR):c.1085del (p.Asp362fs) rs879254786
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe) rs879254801
NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter) rs879254411
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1178del (p.Lys393fs) rs879254815
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.1186+1G>A rs730880131
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1187-2A>G rs879254823
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1359-30C>T
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1363del (p.Gln455fs) rs879254881
NM_000527.5(LDLR):c.1374_1375del (p.Arg458fs) rs879254884
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1434G>A (p.Gly478=) rs886039832
NM_000527.5(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs) rs879254919
NM_000527.5(LDLR):c.1499T>C (p.Val500Ala) rs886039833
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1586+2T>A rs879254945
NM_000527.5(LDLR):c.1586+2T>C rs879254945
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1618_1620del (p.Ala540del) rs879254961
NM_000527.5(LDLR):c.1633G>T (p.Gly545Trp) rs879254965
NM_000527.5(LDLR):c.1640_1652delinsAGCGTCATCTTCCTGAC (p.Leu547fs) rs879254967
NM_000527.5(LDLR):c.1659_1661delinsATACTTTCA (p.Tyr553_Ser554delinsTer) rs879254975
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.5(LDLR):c.1689dup (p.Asn564fs) rs879254988
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.1705+1G>C rs875989926
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1706-69G>T rs7259278
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.1731G>A (p.Trp577Ter) rs875989928
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.5(LDLR):c.1756del (p.Ser586fs) rs879255013
NM_000527.5(LDLR):c.1757C>A (p.Ser586Ter) rs1555806455
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1802A>T (p.Asp601Val) rs879255027
NM_000527.5(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.5(LDLR):c.1830_1839del (p.Ala612fs) rs886039834
NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_000527.5(LDLR):c.1845+11C>G rs370245937
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+1del
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.1891_2311+1062del
NM_000527.5(LDLR):c.1907G>T (p.Gly636Val) rs879255072
NM_000527.5(LDLR):c.1934dup (p.Asn645fs) rs879255076
NM_000527.5(LDLR):c.1936del (p.Leu646fs) rs879255078
NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro) rs879255079
NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe) rs879255087
NM_000527.5(LDLR):c.1988-1G>A rs1555807335
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.2015del (p.Leu672fs) rs879255112
NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser) rs2569548
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs) rs879255131
NM_000527.5(LDLR):c.2092del (p.Cys698fs) rs879255135
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2140+86C>G rs587776886
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.5(LDLR):c.2150C>G (p.Ala717Gly) rs879255150
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2201_2202del (p.Thr734fs) rs879255163
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.236dup (p.Asn80fs) rs879254443
NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe) rs761123215
NM_000527.5(LDLR):c.2384C>A (p.Pro795His) rs879255184
NM_000527.5(LDLR):c.2385del (p.Ile796fs) rs879255185
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000527.5(LDLR):c.2389+46C>T
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del) rs879255195
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.5(LDLR):c.2399T>A (p.Val800Asp) rs879255199
NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs) rs879255198
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg) rs879255204
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.2547+1G>A rs879255224
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.28T>A (p.Trp10Arg) rs879254386
NM_000527.5(LDLR):c.292G>C (p.Gly98Arg) rs750474121
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.310_313del (p.Cys104fs) rs879254463
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+1G>T rs112029328
NM_000527.5(LDLR):c.313+6T>C rs879254468
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.5(LDLR):c.369_370del (p.Arg124fs) rs879254496
NM_000527.5(LDLR):c.369_393del (p.Arg124fs) rs879254497
NM_000527.5(LDLR):c.382_385del (p.Cys128fs) rs879254504
NM_000527.5(LDLR):c.407A>T (p.Asp136Val) rs879254516
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.424_430del (p.Ser142fs) rs879254521
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.5(LDLR):c.473C>G (p.Ser158Cys) rs763998635
NM_000527.5(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr) rs879254554
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.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.618_638del (p.Gly207_Ser213del) rs886039830
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro) rs879254602
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.666C>G (p.Cys222Trp) rs756613387
NM_000527.5(LDLR):c.668_681dup (p.Glu228fs) rs1555803424
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.675del (p.Lys225fs) rs879254633
NM_000527.5(LDLR):c.68-1G>C rs879254397
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
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>G (p.Cys231Trp) rs121908035
NM_000527.5(LDLR):c.705_791del (p.Cys236_Met264del) rs1555803644
NM_000527.5(LDLR):c.724C>T (p.Gln242Ter) rs879254658
NM_000527.5(LDLR):c.768C>A (p.Asp256Glu) rs879254671
NM_000527.5(LDLR):c.77_78del (p.Arg26fs) rs879254400
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.818-2A>G
NM_000527.5(LDLR):c.818-3C>G rs886039831
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.925_931del (p.Pro309fs) rs387906304
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.940+2T>C rs875989912
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.986G>T (p.Cys329Phe) rs761954844
NM_174936.4(PCSK9):c.-245G>T rs28362201
NM_174936.4(PCSK9):c.-67C>A rs886039836
NM_174936.4(PCSK9):c.-73A>G rs886039835
NM_174936.4(PCSK9):c.1061A>T (p.Asn354Ile) rs1553137543
NM_174936.4(PCSK9):c.1120G>C (p.Asp374His) rs137852912
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.1180+22T>C rs886039848
NM_174936.4(PCSK9):c.1181-53T>C rs886039849
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.185C>A (p.Ala62Asp) rs886039839
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.372G>A (p.Val124=) rs886039841
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly) rs1553135971
NM_174936.4(PCSK9):c.400-11G>A rs886039844
NM_174936.4(PCSK9):c.400-22C>A rs886039843
NM_174936.4(PCSK9):c.400-94G>A rs886039842
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.503C>A (p.Ala168Glu) rs770592607
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.4(PCSK9):c.654A>T (p.Arg218Ser) rs970575319
NM_174936.4(PCSK9):c.657+107C>T rs886039846
NM_174936.4(PCSK9):c.657+114del rs397735050
NM_174936.4(PCSK9):c.657+82G>A rs625619
NM_174936.4(PCSK9):c.657+91G>C rs886039845
NM_174936.4(PCSK9):c.658-36G>C rs11800265
NM_174936.4(PCSK9):c.733G>A (p.Ala245Thr) rs1210030445
NM_174936.4(PCSK9):c.815G>A (p.Arg272Gln) rs1486032110
NM_174936.4(PCSK9):c.996+44A>G rs67578331
NM_174936.4(PCSK9):c.996+65G>C rs886039847
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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