ClinVar Miner

List of variants in gene COL7A1 reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.2817A>G (p.Pro939=) rs1264194 0.74010
NM_000094.4(COL7A1):c.3139+12G>A rs2255532 0.45078
NM_000094.4(COL7A1):c.5821-61C>T rs9881877 0.14477
NM_000094.4(COL7A1):c.7164+28A>G rs9878950 0.14230
NM_000094.4(COL7A1):c.4899+27T>C rs1003649 0.13975
NM_000094.4(COL7A1):c.7759-98C>A rs2532848 0.12389
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561 0.09897
NM_000094.4(COL7A1):c.7522-49T>C rs6781283 0.08659
NM_000094.4(COL7A1):c.6618+21A>G rs9814951 0.06795
NM_000094.4(COL7A1):c.6279+26C>T rs76140443 0.05774
NM_000094.4(COL7A1):c.8305-20G>C rs17256786 0.05213
NM_000094.4(COL7A1):c.8304+34C>T rs41290686 0.05173
NM_000094.4(COL7A1):c.1358-25C>T rs72925275 0.04058
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247 0.03954
NM_000094.4(COL7A1):c.8359-19T>C rs78922394 0.02970
NM_000094.4(COL7A1):c.2587+28C>T rs76683871 0.02616
NM_000094.4(COL7A1):c.5424+61C>T rs73078310 0.02609
NM_000094.4(COL7A1):c.2314+15G>A rs144483183 0.02210
NM_000094.4(COL7A1):c.6715-18C>T rs13325221 0.01922
NM_000094.4(COL7A1):c.3975+11C>T rs7637885 0.01719
NM_000094.4(COL7A1):c.-57T>G rs115744844 0.01649
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile) rs74453879 0.01453
NM_000094.4(COL7A1):c.*65T>C rs74780677 0.01436
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000094.4(COL7A1):c.4483-11T>C rs74390291 0.00777
NM_000094.4(COL7A1):c.6217-6C>T rs191559835 0.00648
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.5154+5T>C rs2854400 0.00317
NM_000094.4(COL7A1):c.8472C>T (p.Ala2824=) rs116591500 0.00299
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.5259C>T (p.Pro1753=) rs151261530 0.00267
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=) rs146901730 0.00210
NM_000094.4(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473 0.00151
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00111
NM_000094.4(COL7A1):c.1191C>G (p.Thr397=) rs143270071 0.00096
NM_000094.4(COL7A1):c.7313C>G (p.Pro2438Arg) rs185142403 0.00080
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586 0.00066
NM_000094.4(COL7A1):c.4722+11C>T rs145729790 0.00049
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=) rs117723065 0.00038
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile) rs142568125 0.00030
NM_000094.4(COL7A1):c.8047-4C>T rs185429200 0.00029
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr) rs149342284 0.00019
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu) rs199967174 0.00011
NM_000094.4(COL7A1):c.5986A>G (p.Ile1996Val) rs771271966 0.00011
NM_000094.4(COL7A1):c.2072C>T (p.Thr691Met) rs771007419 0.00010
NM_000094.4(COL7A1):c.4517G>A (p.Arg1506Gln) rs372793584 0.00006
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys) rs142108058 0.00005
NM_000094.4(COL7A1):c.7722C>T (p.Ala2574=) rs141873874 0.00004
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882 0.00003
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile) rs562548943 0.00003
NM_000094.4(COL7A1):c.4968G>A (p.Glu1656=) rs779192809 0.00003
NM_000094.4(COL7A1):c.2169C>T (p.His723=) rs147643230 0.00002
NM_000094.4(COL7A1):c.277G>A (p.Gly93Ser) rs758306555 0.00001
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803 0.00001
NM_000094.4(COL7A1):c.7192G>A (p.Gly2398Ser) rs755361003 0.00001
NM_000094.4(COL7A1):c.7485+7C>G rs1351722964 0.00001
NM_000094.4(COL7A1):c.*162C>T rs545650545
NM_000094.4(COL7A1):c.*216G>C rs1803298
NM_000094.4(COL7A1):c.2394G>A (p.Gly798=) rs1170929677
NM_000094.4(COL7A1):c.2634C>T (p.Arg878=) rs201412774
NM_000094.4(COL7A1):c.2710+35T>G rs28581474
NM_000094.4(COL7A1):c.2711-4C>T rs1575477823
NM_000094.4(COL7A1):c.4767del (p.Asp1590fs) rs1057517721
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup) rs543646523
NM_000094.4(COL7A1):c.6270T>A (p.Pro2090=) rs2044195363
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser) rs140041143

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