ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Eurofins NTD LLC (GA) and "likely pathogenic" from PreventionGenetics, part of Exact Sciences

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) rs17222547 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001385.3(DPYS):c.424-1G>A rs879851088 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_000016.6(ACADM):c.447G>A (p.Met149Ile) rs121434277 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) rs1564687941 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001849.4(COL6A2):c.1396-1G>A rs1331260332 0.00001
NM_003630.3(PEX3):c.288-1G>A rs752904598 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs) rs751610886
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.930+1G>A rs886042902
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002427.4(MMP13):c.772dup (p.Asp258fs) rs797044754
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter) rs746830415
NM_006017.3(PROM1):c.1234del (p.Tyr412fs) rs1460604134
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_025193.4(HSD3B7):c.890del (p.Phe297fs) rs886043511
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769

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.