List of variants in gene LAMA3 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_198129.4(LAMA3):c.5872G>T (p.Gly1958Ter)	rs2080986242	0.00001
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)	rs774133746	0.00001
NM_198129.4(LAMA3):c.8178-1G>C	rs1047102588
NM_198129.4(LAMA3):c.8295+1_8295+11del
NM_198129.4(LAMA3):c.8862+1G>A
NM_198129.4(LAMA3):c.9642G>T (p.Lys3214Asn)

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