List of variants reported as pathogenic for Junctional epidermolysis bullosa, non-Herlitz type by Baylor Genetics

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Total variants: 4

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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.958_1034dup (p.Asn345fs)	rs1553277702	0.00028
NM_198129.4(LAMA3):c.7654C>T (p.Arg2552Ter)	rs1181742615	0.00001
NM_000494.4(COL17A1):c.505C>T (p.Arg169Ter)	rs1564684815

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