ClinVar Miner

List of variants in gene LDLR reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter) rs769737896
NM_000527.4(LDLR):c.1187-2A>G rs879254823
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.4(LDLR):c.1439C>T (p.Ala480Val) rs1064794259
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1478_1479delCT (p.S493Cfs*41) rs869025453
NM_000527.4(LDLR):c.1540G>T (p.Glu514Ter) rs1555805507
NM_000527.4(LDLR):c.1706-1G>C rs879254996
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.4(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.4(LDLR):c.2271del (p.Leu759fs) rs875989940
NM_000527.4(LDLR):c.2389+1G>A rs879255186
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.4(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.4(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+3A>C rs1064793799
NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.513del (p.Asp172fs) rs879254552
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.651_653TGG[1] (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.653delG (p.G218Vfs*46) rs137853966
NM_000527.4(LDLR):c.68-1G>C rs879254397
NM_000527.4(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.683A>C (p.Glu228Ala) rs879254642
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) rs751122998
NM_000527.4(LDLR):c.932_939delinsGAGAGTGG (p.Lys311_Cys313delinsArgGluTrp) rs1555803913
NM_000527.4(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.4(LDLR):c.952T>C (p.Cys318Arg) rs879254738

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.