List of variants in gene COL7A1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)	rs116005007	0.00425
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)	rs35899847	0.00343
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)	rs151111203	0.00322
NM_000094.4(COL7A1):c.8472C>T (p.Ala2824=)	rs116591500	0.00322
NM_000094.4(COL7A1):c.5154+5T>C	rs2854400	0.00317
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)	rs2228563	0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)	rs35623035	0.00285
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=)	rs151261530	0.00267
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)	rs146901730	0.00220
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)	rs141290741	0.00212
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu)	rs79378857	0.00150
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)	rs139521707	0.00121
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)	rs140114392	0.00113
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile)	rs148625586	0.00066
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)	rs144825552	0.00044
NM_000094.4(COL7A1):c.8047-4C>T	rs185429200	0.00029
NM_000094.4(COL7A1):c.2072C>T (p.Thr691Met)	rs771007419	0.00009
NM_000094.4(COL7A1):c.3432C>T (p.Tyr1144=)	rs199679633	0.00009
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)	rs372585819	0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=)	rs142686837	0.00006
NM_000094.4(COL7A1):c.2370C>T (p.Asp790=)	rs368234577	0.00001
NM_000094.4(COL7A1):c.5172C>T (p.Arg1724=)	rs775290112	0.00001
NM_000094.4(COL7A1):c.1883G>A (p.Arg628Gln)
NM_000094.4(COL7A1):c.2634C>T (p.Arg878=)	rs201412774
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=)	rs144700737
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)	rs34360255

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