ClinVar Miner

List of variants reported as pathogenic by Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=) rs758886532 0.00003
NM_000094.4(COL7A1):c.682+1G>A rs775288140 0.00003
NM_000094.4(COL7A1):c.497dup (p.Val168fs) rs766902987 0.00002
NM_000094.4(COL7A1):c.7068+5G>A rs779875751 0.00002
NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys) rs762084565 0.00002
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser) rs1333259313 0.00002
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter) rs759634066 0.00001
NM_000094.4(COL7A1):c.4011G>A (p.Pro1337=) rs201597369 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4783-1G>A rs371908708 0.00001
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847 0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp) rs747081862 0.00001
NM_000094.4(COL7A1):c.6190G>A (p.Gly2064Arg) rs866061439 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter) rs772381373 0.00001
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg) rs1800013 0.00001
NM_000094.4(COL7A1):c.7380+2T>C rs1249145909 0.00001
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851 0.00001
NM_000094.3(COL7A1):c.4603del rs2044824444
NM_000094.3(COL7A1):c.7760del rs2107638590
NM_000094.4(COL7A1):c.2708del (p.Glu903fs) rs2107763474
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs) rs1235811820
NM_000094.4(COL7A1):c.329_332dup (p.Ser111_Tyr112insTer) rs1256976418
NM_000094.4(COL7A1):c.343_344del (p.Gly115fs) rs1480404745
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.4011+1G>A rs1553862581
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4342-2A>G rs2107727475
NM_000094.4(COL7A1):c.4827_4834del (p.Gly1610fs) rs2107711734
NM_000094.4(COL7A1):c.5318G>A (p.Gly1773Asp) rs2107697174
NM_000094.4(COL7A1):c.5532+1G>T rs767182886
NM_000094.4(COL7A1):c.5679del (p.Pro1894fs) rs2107682223
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.4(COL7A1):c.6008G>A (p.Gly2003Glu) rs2107675162
NM_000094.4(COL7A1):c.6016G>A (p.Gly2006Ser) rs2107675136
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.6025G>A (p.Gly2009Arg) rs2107675021
NM_000094.4(COL7A1):c.6035G>A (p.Gly2012Asp) rs2107674937
NM_000094.4(COL7A1):c.6073G>A (p.Gly2025Ser) rs2107674627
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6110G>A (p.Gly2037Glu) rs121912846
NM_000094.4(COL7A1):c.6119G>A (p.Gly2040Asp) rs2044225406
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6136G>A (p.Gly2046Ser) rs2107674135
NM_000094.4(COL7A1):c.6164G>A (p.Gly2055Glu) rs1553854678
NM_000094.4(COL7A1):c.6191G>A (p.Gly2064Glu) rs2107672816
NM_000094.4(COL7A1):c.6209G>A (p.Gly2070Glu) rs2107672732
NM_000094.4(COL7A1):c.6227G>A (p.Gly2076Asp) rs121912850
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg) rs2107671960
NM_000094.4(COL7A1):c.6280-2_6281del rs2107670544
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6573+5G>A rs2107663986
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu) rs781720055
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser) rs2107661505
NM_000094.4(COL7A1):c.6733G>A (p.Gly2245Ser) rs2107660536
NM_000094.4(COL7A1):c.676C>T (p.Arg226Ter) rs753819164
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=) rs1362309822
NM_000094.4(COL7A1):c.7244dup (p.Met2415fs) rs1336686272
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter) rs983476178
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter) rs765529435
NM_000094.4(COL7A1):c.7708del (p.Asp2570fs) rs2107639823
NM_000094.4(COL7A1):c.7877G>A (p.Gly2626Asp) rs2107636603
NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala) rs745691610
NM_000094.4(COL7A1):c.8244del (p.Gly2749fs) rs2107632018
NM_000094.4(COL7A1):c.8357_8358+4del rs2107631188
NM_000094.4(COL7A1):c.8416_8417del (p.Gly2806fs) rs2107628480
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458

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