ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from 3billion and "likely benign" from any submitter

Minimum review status of the submission from 3billion: Collection method of the submission from 3billion:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) rs201801144 0.00034
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) rs145463632 0.00029
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His) rs368695808 0.00013
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu) rs761051181 0.00002
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649 0.00001
NC_000011.10:g.47332282_47332306del rs36212066
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000276.4(OCRL):c.1245-20T>G
NM_000925.4(PDHB):c.96+12G>A rs773433623
NM_001378120.1(MBD5):c.3595C>T (p.Leu1199=) rs2105093530
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)

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.