ClinVar Miner

List of variants reported as likely pathogenic for generalized junctional epidermolysis bullosa non-Herlitz type by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00004
NM_000228.3(LAMB3):c.1597+1G>T rs1553277072 0.00001
NM_000213.5(ITGB4):c.5218+2T>C rs780675808
NM_000228.3(LAMB3):c.1192C>T (p.Gln398Ter)
NM_000228.3(LAMB3):c.1201_1202del (p.Cys401fs)
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000228.3(LAMB3):c.1357del (p.Cys453fs)
NM_000228.3(LAMB3):c.1410del (p.His469_Trp470insTer)
NM_000228.3(LAMB3):c.1472del (p.Pro491fs)
NM_000228.3(LAMB3):c.1485+1G>A
NM_000228.3(LAMB3):c.1676del (p.Gly558_Leu559insTer) rs1666431089
NM_000228.3(LAMB3):c.2242G>T (p.Glu748Ter)
NM_000228.3(LAMB3):c.2495del (p.Ala832fs)
NM_000228.3(LAMB3):c.2701+2T>C
NM_000228.3(LAMB3):c.28+1G>T rs113077137
NM_000228.3(LAMB3):c.28+2dup
NM_000228.3(LAMB3):c.2911_2938del
NM_000228.3(LAMB3):c.3004C>T (p.Gln1002Ter)
NM_000228.3(LAMB3):c.3061_3063delinsAAAAGCTG (p.Val1021fs)
NM_000228.3(LAMB3):c.314del (p.Ser105fs)
NM_000228.3(LAMB3):c.3163del (p.Ala1055fs)
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
NM_000228.3(LAMB3):c.372+2T>G rs1057516675
NM_000228.3(LAMB3):c.435_436del (p.Tyr146fs) rs1666824858
NM_000228.3(LAMB3):c.532C>T (p.Gln178Ter)
NM_000228.3(LAMB3):c.568C>T (p.Gln190Ter)
NM_000228.3(LAMB3):c.73del (p.Ala25fs)
NM_000228.3(LAMB3):c.81T>G (p.Tyr27Ter)

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