List of variants in gene PLEC reported as uncertain significance 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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys)	rs782713908	0.00004
NM_201384.3(PLEC):c.5828AGCTGG[4] (p.1943EL[4])	rs782811601
NM_201384.3(PLEC):c.815T>C (p.Val272Ala)	rs1554721734

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