List of variants in gene LAMB3 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000228.3(LAMB3):c.1132+5G>A	rs770302956	0.00002
NM_000228.3(LAMB3):c.1756C>T (p.Gln586Ter)	rs749842554	0.00001
NM_000228.3(LAMB3):c.628+1G>A	rs1057516539	0.00001
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)	rs1057517096
NM_000228.3(LAMB3):c.1486-1G>A	rs1418276828
NM_000228.3(LAMB3):c.2685_2701+2del	rs1571803654
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)	rs1057516759
NM_000228.3(LAMB3):c.622del (p.Ile208fs)	rs768303931
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)

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