ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet: Collection method of the submission from Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NC_000018.9:g.77748581_77748614del34 rs535089924
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693

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