ClinVar Miner

List of variants in gene LDLR reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NM_000527.4(LDLR):c.*1131G>T rs886054170
NM_000527.4(LDLR):c.*1133G>C rs181377148
NM_000527.4(LDLR):c.*1140G>A rs367606490
NM_000527.4(LDLR):c.*1153G>A rs886054171
NM_000527.4(LDLR):c.*1168G>A rs17242683
NM_000527.4(LDLR):c.*1216dup rs34113544
NM_000527.4(LDLR):c.*1217C>G rs3180023
NM_000527.4(LDLR):c.*1232_*1234CTA[1] rs398059563
NM_000527.4(LDLR):c.*1256C>T rs886054172
NM_000527.4(LDLR):c.*1262T>C rs2915966
NM_000527.4(LDLR):c.*1268C>T rs2978615
NM_000527.4(LDLR):c.*1292C>T rs556381931
NM_000527.4(LDLR):c.*1332G>A rs10415069
NM_000527.4(LDLR):c.*1336C>G rs72658877
NM_000527.4(LDLR):c.*1340C>A rs186461273
NM_000527.4(LDLR):c.*1354T>C rs7258146
NM_000527.4(LDLR):c.*1356C>T rs886054173
NM_000527.4(LDLR):c.*1376T>C rs55903358
NM_000527.4(LDLR):c.*1419C>A rs55971831
NM_000527.4(LDLR):c.*141G>A rs3826810
NM_000527.4(LDLR):c.*1430C>T rs7254521
NM_000527.4(LDLR):c.*1453A>G rs5742911
NM_000527.4(LDLR):c.*1510T>C rs17249057
NM_000527.4(LDLR):c.*1600G>T rs17249064
NM_000527.4(LDLR):c.*1609G>T rs886054174
NM_000527.4(LDLR):c.*169G>T rs886054157
NM_000527.4(LDLR):c.*1743C>T rs2738467
NM_000527.4(LDLR):c.*1752G>A rs886054175
NM_000527.4(LDLR):c.*1762T>G rs550542566
NM_000527.4(LDLR):c.*1793A>C rs886054176
NM_000527.4(LDLR):c.*1831T>A rs886054177
NM_000527.4(LDLR):c.*1858G>A rs886054178
NM_000527.4(LDLR):c.*1895A>T rs886054179
NM_000527.4(LDLR):c.*1916A>G rs886054180
NM_000527.4(LDLR):c.*1917G>A rs886054181
NM_000527.4(LDLR):c.*1931A>G rs886054182
NM_000527.4(LDLR):c.*1960C>T rs8108932
NM_000527.4(LDLR):c.*2016G>A rs72658879
NM_000527.4(LDLR):c.*2054G>A rs28398082
NM_000527.4(LDLR):c.*2076dup rs545860269
NM_000527.4(LDLR):c.*2173T>C rs886054184
NM_000527.4(LDLR):c.*2196_*2197TA[12] rs3980933
NM_000527.4(LDLR):c.*2196_*2197TA[7] rs3980933
NM_000527.4(LDLR):c.*2208T>C rs886054185
NM_000527.4(LDLR):c.*2212_*2213CA[4] rs886054186
NM_000527.4(LDLR):c.*2251G>C rs886054187
NM_000527.4(LDLR):c.*2319C>G rs72658880
NM_000527.4(LDLR):c.*2365C>T rs886054188
NM_000527.4(LDLR):c.*2366G>T rs886054189
NM_000527.4(LDLR):c.*2384G>T rs886054190
NM_000527.4(LDLR):c.*315G>C rs2738464
NM_000527.4(LDLR):c.*338G>A rs17249029
NM_000527.4(LDLR):c.*372C>A rs886054158
NM_000527.4(LDLR):c.*376C>A rs886054159
NM_000527.4(LDLR):c.*420C>A rs746014399
NM_000527.4(LDLR):c.*503C>T rs574677226
NM_000527.4(LDLR):c.*504G>A rs2738465
NM_000527.4(LDLR):c.*523G>T rs886054160
NM_000527.4(LDLR):c.*52G>A rs14158
NM_000527.4(LDLR):c.*563G>T rs886054161
NM_000527.4(LDLR):c.*579G>T rs886054162
NM_000527.4(LDLR):c.*584G>T rs772754135
NM_000527.4(LDLR):c.*653G>C rs563911564
NM_000527.4(LDLR):c.*666T>C rs1433099
NM_000527.4(LDLR):c.*767G>C rs886054163
NM_000527.4(LDLR):c.*773A>G rs2738466
NM_000527.4(LDLR):c.*784C>T rs886054164
NM_000527.4(LDLR):c.*804G>A rs886054165
NM_000527.4(LDLR):c.*808T>G rs562862170
NM_000527.4(LDLR):c.*854G>T rs886054166
NM_000527.4(LDLR):c.*942G>A rs886054167
NM_000527.4(LDLR):c.*946C>A rs886054168
NM_000527.4(LDLR):c.*979C>T rs886054169
NM_000527.4(LDLR):c.*982G>C rs10409044
NM_000527.4(LDLR):c.*994C>T rs189408873
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+7= rs2738442
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1413A>G (p.Arg471=) rs5930
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1545C>T (p.Asn515=) rs147896205
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.4(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.4(LDLR):c.1773C>T (p.Asn591=) rs688
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.191-15C>G rs749245318
NM_000527.4(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.4(LDLR):c.1988-13T>G rs200201131
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2140+14C>T rs756150298
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2232A>G (p.Arg744=) rs5927
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.2389+7G>A rs369551855
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.940+9C>T rs17242906

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