List of variants in gene ITGB4 reported as likely benign 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000213.5(ITGB4):c.1434G>T (p.Gln478His)	rs8079267	0.00227
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys)	rs145976111	0.00214
NM_000213.5(ITGB4):c.1533G>A (p.Pro511=)	rs148312483	0.00145
NM_000213.5(ITGB4):c.282C>T (p.Thr94=)	rs146609350	0.00143
NM_000213.5(ITGB4):c.2108A>G (p.Lys703Arg)	rs56119997	0.00035
NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala)	rs183705877	0.00029
NM_000213.5(ITGB4):c.495C>T (p.Ser165=)	rs75092172	0.00020
NM_000213.5(ITGB4):c.1805A>T (p.His602Leu)	rs201103623	0.00007
NM_000213.5(ITGB4):c.3205T>C (p.Ser1069Pro)	rs530916890	0.00007
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr)	rs147480547

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