ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1060+7= rs2738442 0.99995
NM_000527.5(LDLR):c.*315G>C rs2738464 0.80310
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.*666T>C rs1433099 0.66079
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65635
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37645
NM_000527.5(LDLR):c.1060+10G>C rs12710260 0.34072
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33665
NM_000527.5(LDLR):c.*504G>A rs2738465 0.29077
NM_000527.5(LDLR):c.*773A>G rs2738466 0.22823
NM_000527.5(LDLR):c.*52G>A rs14158 0.22737
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07288
NM_000527.5(LDLR):c.*141G>A rs3826810 0.06460
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000527.5(LDLR):c.1061-143C>T rs78598082 0.00804
NM_000527.5(LDLR):c.941-4G>A rs116405216 0.00771
NM_000527.5(LDLR):c.1187-25C>T rs72658862 0.00768
NM_000527.5(LDLR):c.2140+5G>A rs72658867 0.00757
NM_000527.5(LDLR):c.940+9C>T rs17242906 0.00749
NM_000527.5(LDLR):c.1586+16G>A rs114891301 0.00699
NC_000019.10:g.11089281G>T rs17249134 0.00679
NM_000527.5(LDLR):c.1061-8T>C rs72658861 0.00640
NM_000527.5(LDLR):c.2548-23C>T rs72658870 0.00550
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile) rs45508991 0.00495
NM_000527.5(LDLR):c.941-39C>T rs55792959 0.00407
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00316
NC_000019.10:g.11089332C>T rs17249141 0.00314
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00261
NM_000527.5(LDLR):c.*13A>G rs72658871 0.00255
NM_000527.5(LDLR):c.*717G>A rs17243018 0.00245
NM_000527.5(LDLR):c.*517C>A rs115882455 0.00227
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_000527.5(LDLR):c.1706-10G>A rs17248882 0.00154
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.1705+20G>A rs374417615 0.00107
NM_000527.5(LDLR):c.694+25C>T rs199540175 0.00102
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00088
NM_000527.5(LDLR):c.817+9T>C rs375163928 0.00083
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.2548-19G>A rs146008484 0.00043
NM_000527.5(LDLR):c.694+9G>A rs34093283 0.00040
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00038
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys) rs148698650 0.00038
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NC_000019.10:g.11089461G>A rs879254376 0.00025
NM_000527.5(LDLR):c.1705+18C>A rs186896947 0.00022
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00019
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00015
NM_000527.5(LDLR):c.2389+8C>T rs747170426 0.00012
NM_000527.5(LDLR):c.2389+14G>A rs879255192 0.00010
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247 0.00009
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.1987+19C>T rs528368174 0.00005
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) rs756864388 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000527.5(LDLR):c.817+14A>G rs201875602 0.00005
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.1002C>T (p.Ile334=) rs762853526 0.00003
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352 0.00001
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075 0.00001
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_000527.5(LDLR):c.818-15C>G rs79433354 0.00001
NM_000527.5(LDLR):c.-84G>A
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.5(LDLR):c.1187-3dup rs994660852
NM_000527.5(LDLR):c.1988-3dup rs2512430096
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.5(LDLR):c.56C>T (p.Ala19Val) rs879254392
NM_000527.5(LDLR):c.67+833T>C rs57217136
NM_000527.5(LDLR):c.694+24dup rs2515969360
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser) rs72658860

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.