List of variants in gene LAMC2 reported as pathogenic for Junctional epidermolysis bullosa, non-Herlitz type

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005562.3(LAMC2):c.1043del (p.Ile348fs)	rs2102228301
NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter)	rs200783718
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)	rs201307156
NM_005562.3(LAMC2):c.3451C>T (p.Gln1151Ter)	rs2102258267

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