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

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)	rs118203901	0.00002
NM_005562.3(LAMC2):c.2881C>T (p.Gln961Ter)	rs1660058817	0.00001
NM_005562.3(LAMC2):c.1066+1G>T	rs1558092158
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs)	rs778012079

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