ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NC_000019.10:g.(?_11123154)_(11131359_?)dup
NM_000527.4(LDLR):c.-188C>T rs878854023
NM_000527.4(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1080T>G (p.Asp360Glu) rs749322464
NM_000527.4(LDLR):c.1098_1109delGCTCTGCGTGAA (p.Gln366_Asn370delinsHis) rs878854024
NM_000527.4(LDLR):c.1118G>C (p.Gly373Ala)
NM_000527.4(LDLR):c.1175G>A (p.Cys392Tyr) rs1060500986
NM_000527.4(LDLR):c.1209C>A (p.Phe403Leu)
NM_000527.4(LDLR):c.1273A>G (p.Asn425Asp)
NM_000527.4(LDLR):c.1336C>A (p.Leu446Met) rs375651668
NM_000527.4(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1460_1462delACA (p.Asn487del) rs879254911
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.4(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.4(LDLR):c.1562C>T (p.Ala521Val) rs770696696
NM_000527.4(LDLR):c.1588T>G (p.Phe530Val) rs875989924
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1706-5T>A
NM_000527.4(LDLR):c.171_173delTGA (p.Asp57del) rs879254421
NM_000527.4(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1800G>C (p.Glu600Asp) rs764104777
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1819C>T (p.His607Tyr) rs1555806536
NM_000527.4(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.1987G>A (p.Gly663Arg) rs878951797
NM_000527.4(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.4(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.4(LDLR):c.2048C>T (p.Pro683Leu) rs766765648
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.2389G>C (p.Val797Leu)
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.2551_2554delCAGA (p.Gln851Trpfs) rs878854029
NM_000527.4(LDLR):c.257_265delTCTGGAGGT (p.Phe86_Arg88del) rs879254451
NM_000527.4(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.4(LDLR):c.398A>C (p.Asp133Ala)
NM_000527.4(LDLR):c.500G>C (p.Cys167Ser) rs879254548
NM_000527.4(LDLR):c.585C>A (p.Ser195Arg) rs756880555
NM_000527.4(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.4(LDLR):c.709C>T (p.Arg237Cys) rs879254657
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.861C>T (p.Gly287=)
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254

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.