ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) and "likely benign" from any submitter

Minimum review status of the submission from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM): Collection method of the submission from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM):
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_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068

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