ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Genetics in Ophthalmology, Institut Imagine and "likely pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Genetics in Ophthalmology, Institut Imagine: Collection method of the submission from Laboratory of Genetics in Ophthalmology, Institut Imagine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_001122769.3(LCA5):c.858+1G>C rs753594556
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter) rs1692904914
NM_006269.2(RP1):c.5564del (p.Lys1855fs) rs2129318266
NM_014336.5(AIPL1):c.466-1G>C rs1567637467
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys) rs28939720
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158

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.