ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen and "drug response" from any submitter

Minimum review status of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen: Collection method of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818

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