ClinVar Miner

Variants with conflicting interpretations "drug response" from Albrecht-Kossel-Institute, Medical University Rostock and "likely pathogenic" from any submitter

Minimum review status of the submission from Albrecht-Kossel-Institute, Medical University Rostock: Collection method of the submission from Albrecht-Kossel-Institute, Medical University Rostock:
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_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292

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