ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genome Diagnostics Laboratory, Amsterdam University Medical Center and "uncertain significance" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center: Collection method of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497

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.