List of variants in gene COL7A1 reported as likely 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)	rs759634066	0.00001
NM_000094.4(COL7A1):c.2314+2T>G	rs2107771861
NM_000094.4(COL7A1):c.5425-1G>A	rs112850769
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His)	rs1002845719
NM_000094.4(COL7A1):c.6035G>T (p.Gly2012Val)	rs2107674937
NM_000094.4(COL7A1):c.6187C>G (p.Arg2063Gly)	rs121912849
NM_000094.4(COL7A1):c.6502-1G>A	rs2107665131
NM_000094.4(COL7A1):c.6638G>A (p.Gly2213Glu)	rs2107662258
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)	rs1362309822
NM_000094.4(COL7A1):c.8109+1G>T	rs1050797523
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter)	rs886039330

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