ClinVar Miner

List of variants in gene LDLR reported as benign for Familial hypercholesterolemia

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Total variants: 127
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HGVS dbSNP
NM_000527.4(LDLR):c.*13A>G rs72658871
NM_000527.4(LDLR):c.*52G>A rs14158
NM_000527.4(LDLR):c.-13A>G rs376011618
NM_000527.4(LDLR):c.-268G>T rs17249134
NM_000527.4(LDLR):c.1002C>T (p.Ile334=) rs762853526
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1050A>C (p.Arg350=) rs1555804560
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.4(LDLR):c.1060+109T>G rs10401667
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+40G>A rs192390193
NM_000527.4(LDLR):c.1060+7T>C rs2738442
NM_000527.4(LDLR):c.1061-8T>A rs72658861
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1063A>G (p.Ile355Val) rs879254776
NM_000527.4(LDLR):c.1080T>G (p.Asp360Glu) rs749322464
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.4(LDLR):c.108C>T (p.Asp36=) rs373144619
NM_000527.4(LDLR):c.1092C>T (p.Cys364=) rs1555804729
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.4(LDLR):c.1186+106G>A rs191859969
NM_000527.4(LDLR):c.1187-48A>G rs376882446
NM_000527.4(LDLR):c.1187-9G>C rs896885804
NM_000527.4(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.123C>T (p.Ser41=) rs1555802284
NM_000527.4(LDLR):c.1323C>T (p.Ile441=) rs5933
NM_000527.4(LDLR):c.1336C>T (p.Leu446=) rs375651668
NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.4(LDLR):c.1413A>G (p.Arg471=) rs5930
NM_000527.4(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.4(LDLR):c.1431C>T (p.Asp477=) rs368610522
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1491T>C (p.Thr497=) rs145252288
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1545C>T (p.Asn515=) rs147896205
NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) rs141673997
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.165C>G (p.Gly55=) rs150644181
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1706-55A>C rs2738447
NM_000527.4(LDLR):c.1706-69G>T rs7259278
NM_000527.4(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.4(LDLR):c.1773C>T (p.Asn591=) rs688
NM_000527.4(LDLR):c.1802A>G (p.Asp601Gly) rs879255027
NM_000527.4(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1834G>T (p.Ala612Ser) rs879255042
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1863A>C (p.Thr621=) rs768509914
NM_000527.4(LDLR):c.1887C>T (p.Phe629=) rs751234870
NM_000527.4(LDLR):c.190+56G>A rs3745677
NM_000527.4(LDLR):c.191-50C>T rs374168004
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.4(LDLR):c.1987+47G>A rs368167279
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2141-89G>A rs183331751
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2232A>G (p.Arg744=) rs5927
NM_000527.4(LDLR):c.2260G>A (p.Gly754Arg) rs559239150
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2291T>C (p.Ile764Thr) rs759440817
NM_000527.4(LDLR):c.2312-47G>A rs41306974
NM_000527.4(LDLR):c.2324T>C (p.Val775Ala) rs780300776
NM_000527.4(LDLR):c.2389+46C>T rs2738460
NM_000527.4(LDLR):c.2389+47G>A rs13306501
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389+5G>A rs879255191
NM_000527.4(LDLR):c.2389+8C>T rs747170426
NM_000527.4(LDLR):c.2427A>G (p.Leu809=) rs147191787
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2548-42A>G rs6413504
NM_000527.4(LDLR):c.2548-80G>A rs2116897
NM_000527.4(LDLR):c.291C>T (p.Asn97=) rs372845091
NM_000527.4(LDLR):c.314-50T>C rs10423288
NM_000527.4(LDLR):c.324G>A (p.Thr108=) rs146517429
NM_000527.4(LDLR):c.324G>C (p.Thr108=) rs146517429
NM_000527.4(LDLR):c.324G>T (p.Thr108=) rs146517429
NM_000527.4(LDLR):c.345C>G (p.Arg115=) rs150144164
NM_000527.4(LDLR):c.345C>T (p.Arg115=) rs150144164
NM_000527.4(LDLR):c.351C>T (p.His117=) rs200258458
NM_000527.4(LDLR):c.378C>T (p.Phe126=) rs762139262
NM_000527.4(LDLR):c.402C>T (p.Cys134=) rs879254515
NM_000527.4(LDLR):c.408C>T (p.Asp136=) rs759738744
NM_000527.4(LDLR):c.417C>T (p.Asp139=) rs537484504
NM_000527.4(LDLR):c.426C>A (p.Ser142=) rs1555803245
NM_000527.4(LDLR):c.434T>C (p.Val145Ala) rs776872913
NM_000527.4(LDLR):c.447T>C (p.Gly149=) rs765386678
NM_000527.4(LDLR):c.450C>T (p.Pro150=) rs773365925
NM_000527.4(LDLR):c.48C>A (p.Leu16=) rs565675103
NM_000527.4(LDLR):c.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.531G>A (p.Ser177=) rs555158224
NM_000527.4(LDLR):c.543G>T (p.Pro181=) rs766577671
NM_000527.4(LDLR):c.548G>A (p.Arg183His) rs767273754
NM_000527.4(LDLR):c.567G>C (p.Val189=) rs753329861
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.660C>T (p.Pro220=) rs143002616
NM_000527.4(LDLR):c.67+18C>A rs17242759
NM_000527.4(LDLR):c.67+2015G>T rs6511720
NM_000527.4(LDLR):c.68-79G>T rs141878815
NM_000527.4(LDLR):c.681C>T (p.Asp227=) rs121908028
NM_000527.4(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.4(LDLR):c.694+25C>T rs199540175
NM_000527.4(LDLR):c.738A>G (p.Gly246=) rs1555803658
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.817+9T>C rs375163928
NM_000527.4(LDLR):c.819G>A (p.Val273=) rs1555803817
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.828C>T (p.Cys276=) rs146651743
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.858C>T (p.Ser286=) rs140241383
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.940+36G>A rs13306513
NM_000527.4(LDLR):c.940+9C>T rs17242906
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.962del (p.Asn321Thrfs) rs1555804455
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.993C>T (p.Asp331=) rs147905921

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