ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ and "likely benign" from any submitter

Minimum review status of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+: Collection method of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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