ClinVar Miner

List of variants studied for laminopathy by Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002296.4(LBR):c.1757G>A (p.Arg586His) rs573510559 0.00002
NM_002296.4(LBR):c.1748G>A (p.Arg583Gln) rs587777172

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