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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)	rs772142634	0.00001
NM_000210.4(ITGA6):c.2938_2939insT (p.Asp980fs)	rs1686926761
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
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs)	rs1157557804
NM_004999.4(MYO6):c.2751dup (p.Gln918fs)	rs551348450

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