ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "pathogenic" from OMIM

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_006715.4(MAN2C1):c.601-2A>G rs147928844 0.00120
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NM_006918.5(SC5D):c.442A>G (p.Lys148Glu) rs775350797 0.00006
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00003
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) rs34868397
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181

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.