ClinVar Miner

List of variants reported as likely benign for Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate by Fulgent Genetics, Fulgent Genetics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.513T>C (p.Phe171=) rs148048907 0.01650
NM_000213.5(ITGB4):c.5248G>A (p.Gly1750Arg) rs151327791 0.00173
NM_000213.5(ITGB4):c.5091C>T (p.Pro1697=) rs150804109 0.00068
NM_000213.5(ITGB4):c.2963-13G>A rs77473568 0.00061
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val) rs149481974 0.00056
NM_000213.5(ITGB4):c.1215+19A>G rs201686414 0.00052
NM_000213.5(ITGB4):c.387C>T (p.Pro129=) rs140040189 0.00048
NM_000213.5(ITGB4):c.1281G>A (p.Pro427=) rs150638695 0.00032
NM_000213.5(ITGB4):c.2070C>T (p.Gly690=) rs140265734 0.00029
NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala) rs183705877 0.00029
NM_000213.5(ITGB4):c.2962+9G>C rs375133413 0.00024
NM_000213.5(ITGB4):c.495C>T (p.Ser165=) rs75092172 0.00020
NM_000213.5(ITGB4):c.309C>A (p.Pro103=) rs763268075 0.00019
NM_000213.5(ITGB4):c.2577C>T (p.Ser859=) rs148787870 0.00018
NM_000213.5(ITGB4):c.5307C>T (p.Ser1769=) rs145897252 0.00018
NM_000213.5(ITGB4):c.4857A>G (p.Glu1619=) rs369462022 0.00006
NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=) rs368991974 0.00004
NM_000213.5(ITGB4):c.1911G>A (p.Ala637=) rs376183156 0.00003
NM_000213.5(ITGB4):c.5121C>T (p.Ser1707=) rs201439404 0.00001
NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=) rs375483568

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