List of variants in gene COL7A1 reported as benign for Epidermolysis bullosa dystrophica inversa, autosomal recessive

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: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)	rs116005007	0.00425
NM_000094.4(COL7A1):c.1383A>G (p.Val461=)	rs112805032	0.00385
NM_000094.4(COL7A1):c.5778C>T (p.Leu1926=)	rs113151410	0.00384
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)	rs35899847	0.00343
NM_000094.4(COL7A1):c.683-8A>G	rs113167762	0.00337
NM_000094.4(COL7A1):c.6937-9C>G	rs143589222	0.00305
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)	rs2228563	0.00277
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)	rs35623035	0.00276
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)	rs146901730	0.00210
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys)	rs149881350	0.00138
NM_000094.4(COL7A1):c.4068C>T (p.Ile1356=)	rs146913953	0.00111
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)	rs149267939	0.00098
NM_000094.4(COL7A1):c.5343C>T (p.Ser1781=)	rs147919436	0.00057
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=)	rs150776274	0.00055
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)	rs144825552	0.00044
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg)	rs139622306	0.00043
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=)	rs117723065	0.00038
NM_000094.4(COL7A1):c.1836G>T (p.Thr612=)	rs151186709	0.00035
NM_000094.4(COL7A1):c.8047-4C>T	rs185429200	0.00029
NM_000094.4(COL7A1):c.2766C>T (p.Asp922=)	rs201424023	0.00021
NM_000094.4(COL7A1):c.6081C>T (p.Pro2027=)	rs375047225	0.00010
NM_000094.4(COL7A1):c.4719A>G (p.Glu1573=)	rs558405095	0.00006
NM_000094.4(COL7A1):c.5913G>T (p.Leu1971=)	rs754578634	0.00003
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)	rs34360255

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.