ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Sharon lab, Hadassah-Hebrew University Medical Center and "uncertain significance" from any submitter

Minimum review status of the submission from Sharon lab, Hadassah-Hebrew University Medical Center: Collection method of the submission from Sharon lab, Hadassah-Hebrew University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) rs1561480377
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.620T>A (p.Leu207His) rs1591289408
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241

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