ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.*2319C>G rs72658880 0.00326
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.*653G>C rs563911564 0.00167
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_000527.5(LDLR):c.*2004C>T rs539827046 0.00131
NM_000527.5(LDLR):c.*19G>A rs56270417 0.00117
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_000527.5(LDLR):c.*1793A>C rs886054176 0.00099
NM_000527.5(LDLR):c.*2210T>C rs73925118 0.00070
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.*1227C>T rs72658875 0.00052
NM_000527.5(LDLR):c.*1133G>C rs181377148 0.00048
NM_000527.5(LDLR):c.*1369C>T rs191796971 0.00045
NM_000527.5(LDLR):c.2055G>A (p.Pro685=) rs149126953 0.00040
NM_000527.5(LDLR):c.*2365C>T rs886054188 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000527.5(LDLR):c.*994C>T rs189408873 0.00022
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_000527.5(LDLR):c.*966G>A rs991614293 0.00015
NM_000527.5(LDLR):c.*1256C>T rs886054172 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.*1167C>T rs1199016973 0.00009
NM_000527.5(LDLR):c.*2173T>C rs886054184 0.00009
NM_000527.5(LDLR):c.*2282G>C rs969781959 0.00009
NM_000527.5(LDLR):c.1586+15C>T rs371716068 0.00009
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00008
NM_000527.5(LDLR):c.*1356C>T rs886054173 0.00007
NM_000527.5(LDLR):c.*1752G>A rs886054175 0.00007
NM_000527.5(LDLR):c.*1762T>G rs550542566 0.00006
NM_000527.5(LDLR):c.*376C>A rs886054159 0.00006
NM_000527.5(LDLR):c.*533G>T rs771870462 0.00006
NM_000527.5(LDLR):c.*979C>T rs886054169 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.*704G>A rs918417347 0.00005
NM_000527.5(LDLR):c.*1895A>T rs886054179 0.00004
NM_000527.5(LDLR):c.*1961G>A rs567179124 0.00004
NM_000527.5(LDLR):c.*287C>A rs907221420 0.00004
NM_000527.5(LDLR):c.*808T>G rs562862170 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.1988-13T>G rs200201131 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.817+14A>G rs201875602 0.00004
NM_000527.5(LDLR):c.*2251G>C rs886054187 0.00003
NM_000527.5(LDLR):c.*420C>A rs746014399 0.00003
NM_000527.5(LDLR):c.*584G>T rs772754135 0.00003
NM_000527.5(LDLR):c.*804G>A rs886054165 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.186G>A (p.Thr62=) rs55958434 0.00003
NM_000527.5(LDLR):c.2100C>T (p.Asp700=) rs759858813 0.00002
NM_000527.5(LDLR):c.*1040A>T rs1052334287 0.00001
NM_000527.5(LDLR):c.*1131G>T rs886054170 0.00001
NM_000527.5(LDLR):c.*1561C>T rs919800171 0.00001
NM_000527.5(LDLR):c.*169G>T rs886054157 0.00001
NM_000527.5(LDLR):c.*1744G>A rs1028044712 0.00001
NM_000527.5(LDLR):c.*1858G>A rs886054178 0.00001
NM_000527.5(LDLR):c.*767G>C rs886054163 0.00001
NM_000527.5(LDLR):c.*995G>A rs2077729618 0.00001
NM_000527.5(LDLR):c.2391G>C (p.Val797=) rs752846235 0.00001
NM_000527.5(LDLR):c.314C>T (p.Pro105Leu) rs730882079 0.00001
NM_000527.5(LDLR):c.543G>A (p.Pro181=) rs766577671 0.00001
NM_000527.4(LDLR):c.-97G>T rs944580031
NM_000527.5(LDLR):c.*1130A>G rs958607333
NM_000527.5(LDLR):c.*1153G>A rs886054171
NM_000527.5(LDLR):c.*1393C>A rs571673106
NM_000527.5(LDLR):c.*1430C>A rs7254521
NM_000527.5(LDLR):c.*1558C>T rs1334375934
NM_000527.5(LDLR):c.*1609G>T rs886054174
NM_000527.5(LDLR):c.*1831T>A rs886054177
NM_000527.5(LDLR):c.*1916A>G rs886054180
NM_000527.5(LDLR):c.*1917G>A rs886054181
NM_000527.5(LDLR):c.*1931A>G rs886054182
NM_000527.5(LDLR):c.*2076dup rs545860269
NM_000527.5(LDLR):c.*2132G>A rs184187776
NM_000527.5(LDLR):c.*2196TA[12] rs3980933
NM_000527.5(LDLR):c.*2208T>C rs886054185
NM_000527.5(LDLR):c.*2212CA[4] rs886054186
NM_000527.5(LDLR):c.*2350C>G rs565264863
NM_000527.5(LDLR):c.*2366G>T rs886054189
NM_000527.5(LDLR):c.*2384G>T rs886054190
NM_000527.5(LDLR):c.*372C>A rs886054158
NM_000527.5(LDLR):c.*503C>T rs574677226
NM_000527.5(LDLR):c.*523G>T rs886054160
NM_000527.5(LDLR):c.*563G>T rs886054161
NM_000527.5(LDLR):c.*579G>T rs886054162
NM_000527.5(LDLR):c.*716C>T rs951251390
NM_000527.5(LDLR):c.*784C>T rs886054164
NM_000527.5(LDLR):c.*849A>C rs1052078773
NM_000527.5(LDLR):c.*854G>T rs886054166
NM_000527.5(LDLR):c.*942G>A rs886054167
NM_000527.5(LDLR):c.*946C>A rs886054168
NM_000527.5(LDLR):c.1160C>T (p.Pro387Leu) rs756672317
NM_000527.5(LDLR):c.121T>A (p.Ser41Thr) rs2077193859
NM_000527.5(LDLR):c.1441G>A (p.Val481Met) rs879254903
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1707T>G (p.Asp569Glu) rs2077470774
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1859G>C (p.Trp620Ser) rs879255056
NM_000527.5(LDLR):c.1863A>G (p.Thr621=) rs768509914
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.191-15C>G rs749245318
NM_000527.5(LDLR):c.2140+14C>T rs756150298
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2389+7G>A
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.292G>T (p.Gly98Cys) rs750474121
NM_000527.5(LDLR):c.340T>A (p.Phe114Ile) rs776716507
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.817+9T>C

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