ClinVar Miner

List of variants in gene LDLR reported as benign by Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
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.1706-55A>C rs2738447 0.65266
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
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.1060+109T>G rs10401667 0.03443
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
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.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.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.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.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.2260G>A (p.Gly754Arg) rs559239150 0.00001
NM_000527.5(LDLR):c.378C>T (p.Phe126=) rs762139262 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.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.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1706-10G>A
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.2389+46C>T
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.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.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

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