ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare and "pathogenic" from any submitter

Minimum review status of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare: Collection method of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare:
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_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391 0.00018
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622

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