List of variants reported as pathogenic for junctional epidermolysis bullosa, non-Herlitz type by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)	rs80356682	0.00049
NM_000228.3(LAMB3):c.628+42G>A	rs587776812	0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)	rs121912482	0.00001
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs)	rs786205095
NM_000228.3(LAMB3):c.565-3T>C	rs587776813
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)	rs121912486
NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln)	rs121912487
NM_000228.3(LAMB3):c.629-1G>A	rs587776814
NM_000228.3(LAMB3):c.904del (p.Trp302fs)	rs786205094

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