ClinVar Miner

List of variants in gene PLEC studied for Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.12647G>A (p.Arg4216His)	rs151106439	0.00011
NM_201384.3(PLEC):c.12022G>A (p.Glu4008Lys)	rs541833704	0.00001
NM_201384.3(PLEC):c.3973G>A (p.Glu1325Lys)	rs782178037	0.00001

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