List of variants in gene LAMA3 reported as likely pathogenic for epidermolysis bullosa, junctional 2A, intermediate

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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: 30

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HGVS	dbSNP	gnomAD frequency
NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter)	rs534665666	0.00002
NM_198129.4(LAMA3):c.7158+1G>A	rs1057516279	0.00001
NM_198129.4(LAMA3):c.1789-1G>C
NM_198129.4(LAMA3):c.5112+1G>A	rs1057517023
NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs)	rs1555724066
NM_198129.4(LAMA3):c.5462-2A>G
NM_198129.4(LAMA3):c.5546del (p.Gly1849fs)	rs760487161
NM_198129.4(LAMA3):c.5837-1G>A
NM_198129.4(LAMA3):c.5910G>A (p.Trp1970Ter)
NM_198129.4(LAMA3):c.5973del (p.Ala1992fs)
NM_198129.4(LAMA3):c.6005T>A (p.Leu2002Ter)
NM_198129.4(LAMA3):c.6202-2A>G
NM_198129.4(LAMA3):c.6319-1G>A
NM_198129.4(LAMA3):c.6412del (p.Val2139fs)
NM_198129.4(LAMA3):c.7289del (p.Gly2430fs)
NM_198129.4(LAMA3):c.8043G>A (p.Ser2681=)
NM_198129.4(LAMA3):c.8044-2A>C
NM_198129.4(LAMA3):c.8102del (p.Asn2701fs)	rs1555740963
NM_198129.4(LAMA3):c.8177+2T>A
NM_198129.4(LAMA3):c.8211C>A (p.Cys2737Ter)
NM_198129.4(LAMA3):c.8420T>G (p.Leu2807Ter)
NM_198129.4(LAMA3):c.8577-2A>G
NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter)	rs2082180462
NM_198129.4(LAMA3):c.8705del (p.Gln2902fs)	rs2145407506
NM_198129.4(LAMA3):c.8786T>G (p.Leu2929Ter)	rs1401574168
NM_198129.4(LAMA3):c.9498del (p.His3167fs)
NM_198129.4(LAMA3):c.9500dup (p.His3167fs)
NM_198129.4(LAMA3):c.9512-1G>A
NM_198129.4(LAMA3):c.9606del (p.Lys3204fs)
NM_198129.4(LAMA3):c.9867del (p.Thr3290fs)

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