List of variants reported as likely pathogenic for Junctional epidermolysis bullosa, non-Herlitz type

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000494.4(COL17A1):c.3418+2del	rs775244527	0.00026
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)	rs121912482	0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)	rs772038362	0.00001
NM_000228.3(LAMB3):c.1598-1G>T
NM_000228.3(LAMB3):c.628+2T>A	rs1666753666
NM_000228.3(LAMB3):c.891C>G (p.Tyr297Ter)
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr)	rs1553277738
NM_000228.3(LAMB3):c.972_973del (p.Cys325fs)
NM_000494.4(COL17A1):c.1880del (p.Gly627fs)	rs2134611028
NM_000494.4(COL17A1):c.2336-2A>G	rs1478395810
NM_000494.4(COL17A1):c.2435-6_2440del	rs797045084
NM_000494.4(COL17A1):c.3595G>T (p.Glu1199Ter)	rs2134567157
NM_000494.4(COL17A1):c.464-2A>G
NM_000494.4(COL17A1):c.509C>A (p.Ser170Ter)	rs763578030
NM_198129.4(LAMA3):c.8299del (p.Val2767fs)

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