ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals and "uncertain significance" from any submitter

Minimum review status of the submission from Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals: Collection method of the submission from Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055

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