ClinVar Miner

Variants with conflicting interpretations "benign" from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ and "pathogenic" 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: 5
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359

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