ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation

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Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) rs879254934 0.00009
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NC_000019.10:g.11089396C>T rs879254366 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NC_000019.10:g.11089429C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1065C>G (p.Ile355Met) rs960032925 0.00001
NM_000527.5(LDLR):c.1112T>C (p.Leu371Pro) rs1060499920 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser) rs879255034 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NC_000019.10:g.11089400C>A rs879254368
NM_000527.4(LDLR):c.(1586+1_1587-1)_(2547+1_2548-1)del
NM_000527.4(LDLR):c.(1845+1_1846-1)_(*_?)del
NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del
NM_000527.4(LDLR):c.(2311+1_2312-1)_(2547+1_2548-1)del
NM_000527.4(LDLR):c.(2389+1_2390-1)_(*_?)del
NM_000527.4(LDLR):c.(313+1_314-1)_(1586+1_1587-1)dup
NM_000527.4(LDLR):c.(313+1_314-1)_(940+1_941-1)del
NM_000527.4(LDLR):c.(67+1_68-1)_(1586+1_1587-1)del
NM_000527.4(LDLR):c.(67+1_68-1)_(2311+1_2312-1)dup
NM_000527.4(LDLR):c.(940+1_941-1)_(1186+1_1187-1)del
NM_000527.4(LDLR):c.(940+1_941-1)_(1586+1_1587-1)del
NM_000527.4(LDLR):c.(940+1_941-1)_(1845+1_1846-1)del
NM_000527.4(LDLR):c.(?_-1)_(1845+1_1846-1)dup
NM_000527.4(LDLR):c.(?_-1)_(67+1_68-1)del
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-1823_190+566del
NM_000527.4(LDLR):c.1186+700_2141-545del
NM_000527.4(LDLR):c.1187-169_2312-790del
NM_000527.4(LDLR):c.190+984_1846-1160del
NM_000527.4(LDLR):c.67+3968_940+296dup
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1053_1060dup (p.Ile355fs) rs879254768
NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala) rs755449669
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.5(LDLR):c.1085del (p.Asp362fs) rs879254786
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.5(LDLR):c.1091G>C (p.Cys364Ser) rs879254788
NM_000527.5(LDLR):c.1117G>T (p.Gly373Cys) rs879254796
NM_000527.5(LDLR):c.1151_1159del (p.Gln384_Asp386del) rs879254806
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1177A>C (p.Lys393Gln) rs1060499921
NM_000527.5(LDLR):c.1184_1185del (p.Val395fs) rs1060499922
NM_000527.5(LDLR):c.1187-10_1272dup rs1555805127
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) rs879254830
NM_000527.5(LDLR):c.1204_1205del (p.Phe402fs) rs1060499923
NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1358+5G>T rs1060499924
NM_000527.5(LDLR):c.1367_1376del (p.Leu456fs) rs879254883
NM_000527.5(LDLR):c.1377_1380del (p.His460fs) rs879254885
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
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.1510A>T (p.Lys504Ter) rs730882103
NM_000527.5(LDLR):c.1533dup (p.Phe512fs) rs879254933
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) rs879254419
NM_000527.5(LDLR):c.1595A>G (p.Tyr532Cys) rs1060499925
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1632_1633del (p.Gly546fs) rs1060499926
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer) rs879254977
NM_000527.5(LDLR):c.1672G>T (p.Glu558Ter) rs879254980
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.1741A>T (p.Lys581Ter) rs1060499927
NM_000527.5(LDLR):c.1748A>G (p.His583Arg) rs879255007
NM_000527.5(LDLR):c.1752del (p.Ile585fs) rs879255011
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+1G>T rs879255049
NM_000527.5(LDLR):c.1860G>C (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2059A>T (p.Ile687Phe) rs1060499932
NM_000527.5(LDLR):c.2068del (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter) rs369943481
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.5(LDLR):c.2140+2T>C rs879255147
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) rs1555808044
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2253_2256dup (p.Pro753fs) rs1555808111
NM_000527.5(LDLR):c.2311+1941_*1216dup
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2390-1G>A rs879255193
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.5(LDLR):c.2407T>C (p.Cys803Arg) rs1060499930
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.246C>A (p.Cys82Ter) rs875989891
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr) rs749038326
NM_000527.5(LDLR):c.300C>A (p.Asp100Glu) rs766709484
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.314-446_1187-386dup
NM_000527.5(LDLR):c.318dup (p.Lys107fs) rs875989898
NM_000527.5(LDLR):c.347_367del (p.Cys116_Ile122del) rs879254484
NM_000527.5(LDLR):c.369_370del (p.Arg124fs) rs879254496
NM_000527.5(LDLR):c.383G>C (p.Cys128Ser) rs879254506
NM_000527.5(LDLR):c.388T>C (p.Ser130Pro) rs879254508
NM_000527.5(LDLR):c.3G>T (p.Met1Ile) rs879254383
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.445G>T (p.Gly149Cys) rs879254529
NM_000527.5(LDLR):c.472del (p.Ser158fs) rs879254538
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.515A>G (p.Asp172Gly) rs879254555
NM_000527.5(LDLR):c.527G>T (p.Gly176Val) rs879254563
NM_000527.5(LDLR):c.529T>C (p.Ser177Pro) rs1060499919
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.578del (p.Asp193fs) rs879254580
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) rs879254592
NM_000527.5(LDLR):c.625_626dup (p.Ile210fs) rs879254599
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.681C>A (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.683_694del (p.Glu228_Cys231del) rs1064792905
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.695-67_1586+371del
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.896del (p.Ala299fs) rs879254712
NM_000527.5(LDLR):c.917C>G (p.Ser306Ter) rs11547917
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.940_940+14del rs1057519665
NM_000527.5(LDLR):c.947A>C (p.Asn316Thr) rs730882094
NM_000527.5(LDLR):c.949G>T (p.Glu317Ter) rs746834464
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.971del (p.Gly324fs) rs879254745
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_000527.5(LDLR):c.981C>A (p.His327Gln) rs1060499933

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