ClinVar Miner

List of variants in gene LDLR reported as benign for Hypercholesterolemia, familial, 1

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Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2312-136A>G rs2569538 0.86836
NM_000527.5(LDLR):c.*1262T>C rs2915966 0.82752
NM_000527.5(LDLR):c.*315G>C rs2738464 0.80309
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_000527.5(LDLR):c.*666T>C rs1433099 0.65588
NM_000527.5(LDLR):c.1706-55A>C rs2738447 0.65266
NM_000527.5(LDLR):c.1705+182C>T rs2738445 0.58403
NM_000527.5(LDLR):c.1586+53A>G rs1569372 0.41767
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.*1268C>T rs2978615 0.36542
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.*1743C>T rs2738467 0.32777
NM_000527.5(LDLR):c.*504G>A rs2738465 0.29077
NM_000527.5(LDLR):c.*1453A>G rs5742911 0.26927
NM_000527.5(LDLR):c.*1600G>T rs17249064 0.22753
NM_000527.5(LDLR):c.*773A>G rs2738466 0.22642
NM_000527.5(LDLR):c.2548-80G>A rs2116897 0.22593
NM_000527.5(LDLR):c.*1510T>C rs17249057 0.22584
NM_000527.5(LDLR):c.*52G>A rs14158 0.22552
NM_000527.5(LDLR):c.*1336C>G rs72658877 0.22138
NM_000527.5(LDLR):c.*1376T>C rs55903358 0.22087
NM_000527.5(LDLR):c.2548-147G>A rs2116898 0.22073
NM_000527.5(LDLR):c.*1168G>A rs17242683 0.22045
NM_000527.5(LDLR):c.1705+56C>T rs4508523 0.21747
NM_000527.5(LDLR):c.*1419C>A rs55971831 0.21209
NM_000527.5(LDLR):c.1705+209C>T rs7248981 0.21143
NM_000527.5(LDLR):c.*1354T>C rs7258146 0.18343
NM_000527.4(LDLR):c.-2038C>T rs17248720 0.16494
NM_000527.5(LDLR):c.*1430C>T rs7254521 0.13116
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000527.5(LDLR):c.190+56G>A rs3745677 0.09858
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_000527.5(LDLR):c.*141G>A rs3826810 0.06460
NM_000527.5(LDLR):c.314-50T>C rs10423288 0.06015
NM_000527.5(LDLR):c.940+36G>A rs13306513 0.03637
NM_000527.5(LDLR):c.1060+109T>G rs10401667 0.03443
NM_000527.5(LDLR):c.*2016G>A rs72658879 0.03308
NM_000527.5(LDLR):c.*1332G>A rs10415069 0.03144
NM_000527.5(LDLR):c.*982G>C rs10409044 0.03142
NM_000527.5(LDLR):c.2312-47G>A rs41306974 0.01134
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000527.5(LDLR):c.*1340C>A rs186461273 0.00951
NC_000019.10:g.11089281G>T rs17249134 0.00679
NM_000527.5(LDLR):c.2389+57C>T rs145293532 0.00605
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_000527.5(LDLR):c.*13A>G rs72658871 0.00255
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
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.1186+106G>A rs191859969 0.00092
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
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.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.1491T>C (p.Thr497=) rs145252288 0.00015
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.108C>T (p.Asp36=) rs373144619 0.00006
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.681C>T (p.Asp227=) rs121908028 0.00006
NM_000527.5(LDLR):c.2427A>G (p.Leu809=) rs147191787 0.00005
NM_000527.5(LDLR):c.351C>T (p.His117=) rs200258458 0.00005
NM_000527.5(LDLR):c.660C>T (p.Pro220=) rs143002616 0.00005
NM_000527.5(LDLR):c.291C>T (p.Asn97=) rs372845091 0.00004
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 0.00004
NM_000527.5(LDLR):c.1002C>T (p.Ile334=) rs762853526 0.00003
NM_000527.5(LDLR):c.1221C>T (p.His407=) rs778424518 0.00003
NM_000527.5(LDLR):c.1431C>T (p.Asp477=) rs368610522 0.00003
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala) rs780300776 0.00003
NM_000527.5(LDLR):c.417C>T (p.Asp139=) rs537484504 0.00003
NM_000527.5(LDLR):c.450C>T (p.Pro150=) rs773365925 0.00003
NM_000527.5(LDLR):c.-13A>G rs376011618 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.324G>C (p.Thr108=) rs146517429 0.00002
NM_000527.5(LDLR):c.408C>T (p.Asp136=) rs759738744 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.1187-48A>G rs376882446 0.00001
NM_000527.5(LDLR):c.191-50C>T rs374168004 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.2260G>A (p.Gly754Arg) rs559239150 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000527.5(LDLR):c.378C>T (p.Phe126=) rs762139262 0.00001
NM_000527.5(LDLR):c.447T>C (p.Gly149=) rs765386678 0.00001
NM_000527.5(LDLR):c.48C>A (p.Leu16=) rs565675103 0.00001
NM_000527.5(LDLR):c.531G>A (p.Ser177=) rs555158224 0.00001
NM_000527.5(LDLR):c.548G>A (p.Arg183His) rs767273754 0.00001
NM_000527.5(LDLR):c.*1217C>G rs3180023
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1050A>C (p.Arg350=) rs1555804560
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-8T>A rs72658861
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.1092C>T (p.Cys364=) rs1555804729
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.1187-9G>C rs896885804
NM_000527.5(LDLR):c.123C>T (p.Ser41=) rs1555802284
NM_000527.5(LDLR):c.1336C>T (p.Leu446=) rs375651668
NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.5(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1706-69G>T rs7259278
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly) rs879255027
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551
NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser) rs879255042
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1863A>C (p.Thr621=) rs768509914
NM_000527.5(LDLR):c.1987+47G>A rs368167279
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2141-89G>A rs183331751
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2389+46C>T
NM_000527.5(LDLR):c.2389+47G>A
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.324G>A (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.324G>T (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.345C>T (p.Arg115=) rs150144164
NM_000527.5(LDLR):c.402C>T (p.Cys134=) rs879254515
NM_000527.5(LDLR):c.426C>A (p.Ser142=) rs1555803245
NM_000527.5(LDLR):c.543G>T (p.Pro181=) rs766577671
NM_000527.5(LDLR):c.567G>C (p.Val189=) rs753329861
NM_000527.5(LDLR):c.68-79G>T rs141878815
NM_000527.5(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.5(LDLR):c.738A>G (p.Gly246=) rs1555803658
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.819G>A (p.Val273=) rs1555803817
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.962del (p.Asn321fs) rs1555804455
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)

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