ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.*25C>T rs9367 0.71419
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) rs871443 0.61836
NM_000210.4(ITGA6):c.*435A>G rs17664 0.50450
NM_000210.4(ITGA6):c.1487+7A>G rs1920979 0.39869
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) rs8669 0.37872
NM_000210.4(ITGA6):c.182+11A>G rs6744873 0.34918
NM_000210.4(ITGA6):c.182+15C>T rs6716540 0.34218
NM_000210.4(ITGA6):c.1138G>A (p.Ala380Thr) rs11895564 0.30018
NM_000210.4(ITGA6):c.2082C>T (p.Asp694=) rs2293649 0.24360
NM_000213.5(ITGB4):c.5054-15A>G rs8078247 0.15459
NM_000210.4(ITGA6):c.388-13C>A rs1574028 0.06398
NM_000213.5(ITGB4):c.1821G>A (p.Ser607=) rs2290460 0.05352
NM_000210.4(ITGA6):c.*595C>T rs114005087 0.04194
NM_000210.4(ITGA6):c.-138G>A rs144682022 0.04049
NM_000210.4(ITGA6):c.*2374T>C rs16860642 0.03818
NM_000210.4(ITGA6):c.2788G>A (p.Val930Met) rs10209072 0.03264
NM_000213.5(ITGB4):c.702C>T (p.Gly234=) rs61751843 0.02922
NM_000210.4(ITGA6):c.1388+8A>T rs16860507 0.02648
NM_000213.5(ITGB4):c.3729G>A (p.Pro1243=) rs61735289 0.02599
NM_000210.4(ITGA6):c.*1194A>G rs16860635 0.02532
NM_000213.5(ITGB4):c.3976+15G>C rs2603499 0.02476
NM_000210.4(ITGA6):c.2296G>T (p.Asp766Tyr) rs2737085 0.02255
NM_000213.5(ITGB4):c.513T>C (p.Phe171=) rs148048907 0.01650
NM_000213.5(ITGB4):c.1544G>A (p.Arg515His) rs61735297 0.01220
NM_000213.5(ITGB4):c.1377+15C>T rs78048168 0.01106
NM_000210.4(ITGA6):c.*2309C>T rs140413358 0.00826
NM_000213.5(ITGB4):c.1667G>A (p.Arg556His) rs142562582 0.00745
NM_000210.4(ITGA6):c.*2349T>C rs16860641 0.00704
NM_000210.4(ITGA6):c.2820G>A (p.Pro940=) rs34599583 0.00669
NM_000213.5(ITGB4):c.1893C>G (p.Ser631=) rs61735295 0.00640
NM_000210.4(ITGA6):c.986+14A>C rs138182078 0.00578
NM_000210.4(ITGA6):c.*58T>C rs150113724 0.00509
NM_000213.5(ITGB4):c.4093G>A (p.Val1365Ile) rs145750695 0.00495
NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln) rs80224547 0.00477
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=) rs61735292 0.00454
NM_000210.4(ITGA6):c.*2088T>G rs114786166 0.00438
NM_000210.4(ITGA6):c.1744A>G (p.Ile582Val) rs16860530 0.00428
NM_000213.5(ITGB4):c.867C>T (p.His289=) rs150113215 0.00384
NM_000213.5(ITGB4):c.2207G>T (p.Cys736Phe) rs143203816 0.00370
NM_000210.4(ITGA6):c.*1459G>T rs142884581 0.00362
NM_000213.5(ITGB4):c.2115C>A (p.Asp705Glu) rs62639300 0.00357
NM_000213.5(ITGB4):c.5367C>T (p.Gly1789=) rs200199740 0.00332
NM_000210.4(ITGA6):c.2862G>C (p.Ser954=) rs61757097 0.00328
NM_000210.4(ITGA6):c.-14C>G rs144341070 0.00273
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe) rs145644205 0.00272
NM_000210.4(ITGA6):c.2989-6C>T rs147900066 0.00239
NM_000213.5(ITGB4):c.1924G>A (p.Glu642Lys) rs200371855 0.00068
NM_000213.5(ITGB4):c.4559-4C>G rs199620842 0.00059
NM_000210.4(ITGA6):c.*1655G>T rs117775734 0.00038
NM_000213.5(ITGB4):c.1056G>A (p.Ser352=) rs187527294 0.00028
NM_000210.4(ITGA6):c.*1809T>C rs6759915
NM_000210.4(ITGA6):c.2136A>T (p.Ala712=) rs2293648
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) rs149659118
NM_000213.5(ITGB4):c.3384C>T (p.Gly1128=) rs111568842
NM_000213.5(ITGB4):c.4902C>G (p.Ser1634=) rs57812564

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.