ClinVar Miner

Variants in gene SYNE1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter) rs1174316105 0.00001
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) rs766499430
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098

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