ClinVar Miner

Variants with conflicting interpretations "likely 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: 7
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098 0.00001
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084

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