ClinVar Miner

List of variants in gene LDLR reported as likely benign for not specified

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Gene type:
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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00096
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_000527.5(LDLR):c.2055G>A (p.Pro685=) rs149126953 0.00040
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
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.1530G>A (p.Thr510=) rs367655096 0.00019
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00008
NM_000527.5(LDLR):c.267C>T (p.Cys89=) rs777640882 0.00007
NM_000527.5(LDLR):c.108C>T (p.Asp36=) rs373144619 0.00006
NM_000527.5(LDLR):c.1428C>T (p.Pro476=) rs543392107 0.00006
NM_000527.5(LDLR):c.147C>T (p.Ser49=) rs138078086 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) rs756864388 0.00005
NM_000527.5(LDLR):c.1380C>T (p.His460=) rs768883894 0.00004
NM_000527.5(LDLR):c.817+14A>G rs201875602 0.00004
NM_000527.5(LDLR):c.186G>A (p.Thr62=) rs55958434 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.450C>T (p.Pro150=) rs773365925 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000527.5(LDLR):c.1023C>T (p.Pro341=) rs376267007 0.00001
NM_000527.5(LDLR):c.1060+18C>A rs780579614 0.00001
NM_000527.5(LDLR):c.1239G>A (p.Thr413=) rs777011006 0.00001
NM_000527.5(LDLR):c.1284C>T (p.Asn428=) rs368708058 0.00001
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075 0.00001
NM_000527.5(LDLR):c.1854A>G (p.Val618=) rs1248760084 0.00001
NM_000527.5(LDLR):c.447T>C (p.Gly149=) rs765386678 0.00001
NM_000527.5(LDLR):c.774A>G (p.Glu258=) rs1307291980 0.00001
NM_000527.5(LDLR):c.783C>T (p.Cys261=) rs1057519663 0.00001
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1230G>A (p.Arg410=) rs879254839
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1586+16G>T rs114891301
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.5(LDLR):c.2319C>A (p.Gly773=) rs377563758
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.270T>C (p.Asp90=) rs372828849
NM_000527.5(LDLR):c.324G>T (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.330C>G (p.Ser110=) rs768109825
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)

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