List of variants in gene LAMA3 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)	rs137852757	0.00001
NM_198129.4(LAMA3):c.9511+1G>A	rs1296034886	0.00001
NM_198129.4(LAMA3):c.6041del (p.Gln2014fs)	rs1555731178
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer)	rs1158945258
NM_198129.4(LAMA3):c.6943A>T (p.Arg2315Ter)	rs80356679
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter)	rs768415785
NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter)	rs998162536

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