List of variants in gene COL7A1 reported as benign for Recessive 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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu)	rs2228561	0.09897
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu)	rs35761247	0.03954
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)	rs149011081	0.00166

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