ClinVar Miner

List of variants studied for laminopathy by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr) rs190781696 0.00004
NM_182914.3(SYNE2):c.12215A>G (p.Lys4072Arg)

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