ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic by Biomedical Innovation Departament, CIEMAT

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Total variants: 132
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HGVS dbSNP
NC_000003.12:g.48595347G>A
NM_000094.4(COL7A1):c.126dup (p.Leu43fs)
NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter)
NM_000094.4(COL7A1):c.1507G>A (p.Gly503Arg)
NM_000094.4(COL7A1):c.1573C>T rs368007918
NM_000094.4(COL7A1):c.1758del (p.Ser587fs)
NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter)
NM_000094.4(COL7A1):c.2142A>G (p.Gly714=)
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs)
NM_000094.4(COL7A1):c.2588C>G (p.Pro863Arg)
NM_000094.4(COL7A1):c.267-3C>G
NM_000094.4(COL7A1):c.2722_2723del (p.Gln908fs)
NM_000094.4(COL7A1):c.2737G>A (p.Gly913Arg)
NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)
NM_000094.4(COL7A1):c.2984dup (p.Gly996fs)
NM_000094.4(COL7A1):c.2992+2T>G
NM_000094.4(COL7A1):c.3130C>T (p.Gln1044Ter)
NM_000094.4(COL7A1):c.3140-1G>A rs886041187
NM_000094.4(COL7A1):c.3148del (p.Arg1050fs)
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)
NM_000094.4(COL7A1):c.3277-1G>C
NM_000094.4(COL7A1):c.3294C>G (p.Tyr1098Ter)
NM_000094.4(COL7A1):c.336C>G (p.Tyr112Ter)
NM_000094.4(COL7A1):c.3759+1G>T
NM_000094.4(COL7A1):c.3759+2T>G
NM_000094.4(COL7A1):c.3809C>T rs145068043
NM_000094.4(COL7A1):c.3995G>A (p.Gly1332Asp)
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)
NM_000094.4(COL7A1):c.4128delT rs1575466699
NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg)
NM_000094.4(COL7A1):c.4197+1G>T
NM_000094.4(COL7A1):c.4343G>A (p.Gly1448Asp)
NM_000094.4(COL7A1):c.4401+1G>A
NM_000094.4(COL7A1):c.4434dup (p.Lys1479fs)
NM_000094.4(COL7A1):c.448G>C (p.Gly150Arg)
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs)
NM_000094.4(COL7A1):c.4899+31G>A
NM_000094.4(COL7A1):c.497dupA rs766902987
NM_000094.4(COL7A1):c.5017_5018del (p.Gly1673fs)
NM_000094.4(COL7A1):c.5047C>T rs760063197
NM_000094.4(COL7A1):c.5096C>T rs121912845
NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs)
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)
NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter)
NM_000094.4(COL7A1):c.5327G>A (p.Gly1776Glu)
NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu)
NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)
NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter)
NM_000094.4(COL7A1):c.5499C>T rs758886532
NM_000094.4(COL7A1):c.5532+1G>T
NM_000094.4(COL7A1):c.5532+6T>C
NM_000094.4(COL7A1):c.553C>T rs886041186
NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs)
NM_000094.4(COL7A1):c.5569-11_5569-3del
NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs)
NM_000094.4(COL7A1):c.5755G>A (p.Gly1919Arg)
NM_000094.4(COL7A1):c.5771A>G (p.Gln1924Arg)
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.5892_5905del (p.Asp1964fs)
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)
NM_000094.4(COL7A1):c.5932C>T rs1368134215
NM_000094.4(COL7A1):c.5944_5945delinsTA (p.Gly1982Ter)
NM_000094.4(COL7A1):c.6022C>T rs1055680335
NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser)
NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs)
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val)
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) rs780623622
NM_000094.4(COL7A1):c.6082G>A rs762162799
NM_000094.4(COL7A1):c.6100G>A rs121912844
NM_000094.4(COL7A1):c.6119G>A (p.Gly2040Asp)
NM_000094.4(COL7A1):c.6127G>A rs121912836
NM_000094.4(COL7A1):c.6132_6133insAGGCTC (p.Pro2045_Gly2046insArgLeu)
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)
NM_000094.4(COL7A1):c.6178_6179del (p.Arg2060fs)
NM_000094.4(COL7A1):c.6181-2A>G
NM_000094.4(COL7A1):c.6182G>T (p.Gly2061Val)
NM_000094.4(COL7A1):c.6187C>T rs121912849
NM_000094.4(COL7A1):c.6205C>T rs121912855
NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs)
NM_000094.4(COL7A1):c.6341G>A (p.Gly2114Asp)
NM_000094.4(COL7A1):c.6501G>A rs767539005
NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=)
NM_000094.4(COL7A1):c.6527dupC rs768128088
NM_000094.4(COL7A1):c.6573+1G>C
NM_000094.4(COL7A1):c.6574-1G>C
NM_000094.4(COL7A1):c.6618+1G>A
NM_000094.4(COL7A1):c.6662G>C (p.Gly2221Ala)
NM_000094.4(COL7A1):c.6670G>T (p.Gly2224Ter)
NM_000094.4(COL7A1):c.6686C>T (p.Pro2229Leu)
NM_000094.4(COL7A1):c.6767C>T (p.Pro2256Leu)
NM_000094.4(COL7A1):c.6781C>T rs772381373
NM_000094.4(COL7A1):c.6859G>A rs121912839
NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=)
NM_000094.4(COL7A1):c.6900+2T>G
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg)
NM_000094.4(COL7A1):c.7068+5G>A rs779875751
NM_000094.4(COL7A1):c.706C>T rs121912854
NM_000094.4(COL7A1):c.7097G>A (p.Gly2366Asp)
NM_000094.4(COL7A1):c.7104+5G>A
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp)
NM_000094.4(COL7A1):c.7272+5G>A
NM_000094.4(COL7A1):c.7283G>T (p.Gly2428Val)
NM_000094.4(COL7A1):c.7300G>A (p.Gly2434Arg)
NM_000094.4(COL7A1):c.7380+2T>C
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)
NM_000094.4(COL7A1):c.7559G>T (p.Gly2520Val)
NM_000094.4(COL7A1):c.7651G>C (p.Gly2551Arg)
NM_000094.4(COL7A1):c.7686G>C (p.Lys2562Asn)
NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys)
NM_000094.4(COL7A1):c.7756dup (p.Gln2586fs)
NM_000094.4(COL7A1):c.7760G>A (p.Gly2587Asp)
NM_000094.4(COL7A1):c.7864C>T rs139318843
NM_000094.4(COL7A1):c.7864del (p.Arg2622fs)
NM_000094.4(COL7A1):c.7885G>C (p.Gly2629Arg)
NM_000094.4(COL7A1):c.7929+2T>C
NM_000094.4(COL7A1):c.7930-1G>C
NM_000094.4(COL7A1):c.8103_8104dup (p.Glu2702fs)
NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp)
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val)
NM_000094.4(COL7A1):c.8206G>A rs779942952
NM_000094.4(COL7A1):c.8209G>C (p.Gly2737Arg)
NM_000094.4(COL7A1):c.8304+1G>A
NM_000094.4(COL7A1):c.84A>G rs1559444716
NM_000094.4(COL7A1):c.8537_8565del (p.Pro2846fs)
NM_000094.4(COL7A1):c.8572T>C (p.Tyr2858His)
NM_000094.4(COL7A1):c.86-8C>A
NM_000094.4(COL7A1):c.8717del (p.Pro2906fs)
NM_000094.4(COL7A1):c.887delG rs1131691385
NM_000094.4(COL7A1):c.976+50_977-39del
NM_000094.4(COL7A1):c.977-33A>C

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