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

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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: 24

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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.1383A>G (p.Val461=)	rs112805032	0.00414
NM_000094.4(COL7A1):c.5778C>T (p.Leu1926=)	rs113151410	0.00384
NM_000094.4(COL7A1):c.683-8A>G	rs113167762	0.00363
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)	rs35899847	0.00343
NM_000094.4(COL7A1):c.6937-9C>G	rs143589222	0.00323
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.5988C>T (p.Ile1996=)	rs146901730	0.00220
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.1836G>T (p.Thr612=)	rs151186709	0.00035
NM_000094.4(COL7A1):c.8047-4C>T	rs185429200	0.00029
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=)	rs117723065	0.00019
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.2766C>T (p.Asp922=)	rs201424023	0.00004
NM_000094.4(COL7A1):c.5913G>T (p.Leu1971=)	rs754578634	0.00002
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)	rs34360255

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