List of variants reported as pathogenic for Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa by Fulgent Genetics, Fulgent Genetics

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)	rs121912856	0.00009
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)	rs201728948	0.00006
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)	rs144023803	0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)	rs761927109	0.00002
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter)	rs368007918	0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	rs780261665	0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter)	rs761234904	0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter)	rs751535193	0.00001
NM_000094.4(COL7A1):c.1637-1G>A	rs886058642
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)	rs746056280
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)	rs1156352791
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter)	rs1203706188
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs)	rs778165989
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)	rs1560232515
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp)	rs1057517725
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)	rs2045987838
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg)	rs762162799
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)	rs768128088
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs)	rs759990189

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