List of variants in gene COL7A1 reported as likely pathogenic for Epidermolysis bullosa pruriginosa

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)	rs377182638	0.00001
NM_000094.4(COL7A1):c.5765G>T (p.Gly1922Val)	rs2107680342
NM_000094.4(COL7A1):c.8043_8046+4del
NM_000094.4(COL7A1):c.8047G>A (p.Gly2683Ser)	rs1057518863

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