List of variants in gene COL7A1 reported as pathogenic by Mendelics

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)	rs139318843	0.00005
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)	rs761927109	0.00002
NC_000003.12:g.48589471del	rs1336602322
NM_000094.4(COL7A1):c.1758del (p.Ser587fs)	rs2045631974
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter)	rs2045393987
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)	rs1235811820
NM_000094.4(COL7A1):c.3894+1G>A	rs2107741719
NM_000094.4(COL7A1):c.4635+1G>A	rs774890570
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)	rs1560232515
NM_000094.4(COL7A1):c.657del (p.Gly220fs)	rs1575494051
NM_000094.4(COL7A1):c.6751-2_6751-1del	rs760460054

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