ClinVar Miner

Variants with conflicting interpretations "benign" from Molecular Genetics Laboratory, London Health Sciences Centre and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Genetics Laboratory, London Health Sciences Centre: Collection method of the submission from Molecular Genetics Laboratory, London Health Sciences Centre:
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_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657

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