List of variants in gene COL7A1 reported as likely benign 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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu)	rs2229822	0.00472
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His)	rs2229824	0.00408
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)	rs773201784	0.00002
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)	rs549271654	0.00001
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)	rs751768659	0.00001
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)	rs200882719
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)	rs34360255

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