List of variants in gene LAMC2 reported as pathogenic for Junctional epidermolysis bullosa gravis of Herlitz

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005562.3(LAMC2):c.1067-1G>A	rs1558092501	0.00001
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter)	rs118203899
NM_005562.3(LAMC2):c.1066+1del	rs2102228390
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)	rs80356683
NM_005562.3(LAMC2):c.343C>T (p.Arg115Ter)	rs149930148
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter)	rs753268823

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