ClinVar Miner

Variants in gene LOXHD1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter) rs527536011 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_001384474.1(LOXHD1):c.4741-1G>A rs1057524755 0.00001
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) rs1598914701 0.00001
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter) rs1223508098 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter) rs2038190712
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer) rs2033274775

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.