ClinVar Miner

List of variants in gene PLEC reported as likely pathogenic for Epidermolysis bullosa simplex 5B, with muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.7318C>T (p.Gln2440Ter)	rs2131266696

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