ClinVar Miner

Variants with conflicting interpretations "likely benign" from LDLR-LOVD, British Heart Foundation and "benign" from any submitter

Minimum review status of the submission from LDLR-LOVD, British Heart Foundation: Collection method of the submission from LDLR-LOVD, British Heart Foundation:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2312-136A>G rs2569538 0.86836
NM_000527.5(LDLR):c.1705+56C>T rs4508523 0.21747
NM_000527.5(LDLR):c.190+56G>A rs3745677 0.09858
NM_000527.4(LDLR):c.-268G>T rs17249134 0.00679
NM_000527.5(LDLR):c.2389+57C>T rs145293532 0.00605
NM_000527.4(LDLR):c.-217C>T rs17249141 0.00338
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 0.00004
NM_000527.5(LDLR):c.-13A>G rs376011618 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000527.4(LDLR):c.-88G>A
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1706-10G>A
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.2140+5G>A
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2389+14G>A
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.694+25C>T
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A

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.