ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals and "likely pathogenic" 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: 13
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_152564.5(VPS13B):c.6046+1G>C rs750003804

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