ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp) rs1164329850 0.00001
NM_000213.5(ITGB4):c.3793+1G>A rs147222357 0.00001
NM_000213.5(ITGB4):c.3977-19T>A rs1434530468 0.00001
NM_000213.5(ITGB4):c.794dup (p.Ala266fs) rs757050033 0.00001
NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys) rs1422797135 0.00001
GRCh37/hg19 17q25.1(chr17:73735514-73739660)
ITGB4, 1-BP DEL, 1150G
NM_000210.4(ITGA6):c.3167del (p.Lys1056fs) rs1559159868
NM_000210.4(ITGA6):c.915del (p.His305fs) rs2149047683
NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg) rs121912465
NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr) rs2060870463
NM_000213.5(ITGB4):c.1462C>T (p.Gln488Ter)
NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter) rs121912462
NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg) rs121912463
NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser) rs2061001234
NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser) rs902551587
NM_000213.5(ITGB4):c.2633+1G>A rs1348061804
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000213.5(ITGB4):c.3279_3793+180del
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs) rs2061333185
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His) rs121912468
NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs) rs2061355653
NM_000213.5(ITGB4):c.3793+1G>C rs147222357
NM_000213.5(ITGB4):c.3793+2dup rs886041205
NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp) rs121912467
NM_000213.5(ITGB4):c.3842G>C (p.Arg1281Pro)
NM_000213.5(ITGB4):c.4505_4508dup (p.Thr1504fs)
NM_000213.5(ITGB4):c.4620del (p.Thr1542fs) rs794726676
NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter) rs121912464
NM_000213.5(ITGB4):c.467T>C (p.Leu156Pro) rs121912461
NM_000213.5(ITGB4):c.472_566+184del rs2060771091
NM_000213.5(ITGB4):c.4734dup (p.Asn1579fs) rs2143532950
NM_000213.5(ITGB4):c.600dup (p.Phe201fs) rs752657203
NM_000213.5(ITGB4):c.701G>T (p.Gly234Val) rs1038415538
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp) rs761952496
NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter) rs879255260

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