ClinVar Miner

List of variants in gene SYNE2 reported as likely pathogenic for laminopathy

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter) rs140277551
NM_182914.3(SYNE2):c.14503dup (p.Ser4835fs) rs2549255659
NM_182914.3(SYNE2):c.15533_15537del (p.Lys5178fs) rs2549416400
NM_182914.3(SYNE2):c.7681A>T (p.Lys2561Ter) rs1211378375
NM_182914.3(SYNE2):c.990_990+4del rs2550709678

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