ClinVar Miner

List of variants reported as likely benign for Junctional epidermolysis bullosa with pyloric atresia by Illumina Laboratory Services, Illumina

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000210.4(ITGA6):c.*204_*205insT rs61499296 0.12730
NM_000213.5(ITGB4):c.*4C>T rs189610725 0.00703
NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=) rs16860616 0.00670
NM_000210.4(ITGA6):c.2247C>G (p.Val749=) rs61748247 0.00663
NM_000210.4(ITGA6):c.*919A>G rs139374896 0.00548
NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn) rs61737182 0.00515
NM_000210.4(ITGA6):c.*702C>T rs138288164 0.00475
NM_000210.4(ITGA6):c.*882A>C rs147290718 0.00472
NM_000210.4(ITGA6):c.2505+9G>C rs144420350 0.00460
NM_000210.4(ITGA6):c.*408C>T rs114499545 0.00350
NM_000210.4(ITGA6):c.148A>G (p.Met50Val) rs138572695 0.00278
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00269
NM_000213.5(ITGB4):c.4509G>A (p.Ser1503=) rs3191773 0.00241
NM_000210.4(ITGA6):c.*1135T>C rs144685011 0.00239
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
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.3861C>T (p.Asn1287=) rs145351926 0.00213
NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp) rs199587983 0.00209
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_000210.4(ITGA6):c.2858G>A (p.Arg953His) rs150695902 0.00142
NM_000210.4(ITGA6):c.10G>A (p.Ala4Thr) rs201418157 0.00139
NM_000213.5(ITGB4):c.4589C>T (p.Thr1530Met) rs140575355 0.00083
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_000210.4(ITGA6):c.*751A>G rs2178473 0.00028
NM_000213.5(ITGB4):c.495C>T (p.Ser165=) rs75092172 0.00020
NM_000210.4(ITGA6):c.2538C>T (p.Leu846=) rs181814375 0.00014
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_000210.4(ITGA6):c.*747A>G rs564832593 0.00001
NM_000210.4(ITGA6):c.*1339T>A rs565937964
NM_000210.4(ITGA6):c.*1901dup rs139972066
NM_000210.4(ITGA6):c.*1940dup rs150850702
NM_000210.4(ITGA6):c.2245-3del rs746830225
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr) rs147480547
NM_000213.5(ITGB4):c.4441G>A (p.Val1481Met) rs546010811
NM_000213.5(ITGB4):c.4709-3del rs56408237
NM_000213.5(ITGB4):c.5055G>C (p.Gly1685=) rs148658410
NM_000213.5(ITGB4):c.5219-15A>T rs142184100

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