List of variants in gene COL7A1 reported as uncertain significance for 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)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.7416C>T (p.Gly2472=)	rs142651194	0.00016
NM_000094.4(COL7A1):c.7128G>A (p.Pro2376=)	rs776459582	0.00003
NM_000094.4(COL7A1):c.5772G>A (p.Gln1924=)	rs2107680234
NM_000094.4(COL7A1):c.7976G>A (p.Gly2659Glu)	rs2107635651
NM_000094.4(COL7A1):c.80A>G (p.Glu27Gly)	rs2107811799
NM_000094.4(COL7A1):c.811G>C (p.Gly271Arg)	rs2531335596
NM_000094.4(COL7A1):c.8236G>C (p.Gly2746Arg)	rs2107632058

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