ClinVar Miner

List of variants in gene PLEC studied for Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Autosomal recessive limb-girdle muscular dystrophy type 2Q

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.9742G>A (p.Gly3248Ser)	rs782522164	0.00001

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