List of variants in gene ITGB4 reported as likely pathogenic for Junctional epidermolysis bullosa with pyloric atresia

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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_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)	rs772142634	0.00001
NM_000213.5(ITGB4):c.214T>C (p.Cys72Arg)
NM_000213.5(ITGB4):c.2550+1G>A	rs545619665
NM_000213.5(ITGB4):c.2783-2A>G	rs758551913

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