List of variants in gene COL7A1 reported as pathogenic for Transient bullous dermolysis of the newborn

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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: 14

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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
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.3840del (p.Gly1281fs)	rs757688782
NM_000094.4(COL7A1):c.3894+1G>A	rs2107741719
NM_000094.4(COL7A1):c.4120-1G>C	rs1299648939
NM_000094.4(COL7A1):c.4556G>A (p.Gly1519Asp)	rs121912835
NM_000094.4(COL7A1):c.4565G>A (p.Gly1522Glu)	rs387906605
NM_000094.4(COL7A1):c.4635+1G>A	rs774890570
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)	rs1560232515
NM_000094.4(COL7A1):c.6751-2_6751-1del	rs760460054
NM_000094.4(COL7A1):c.6752G>A (p.Gly2251Glu)	rs121912834

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