ClinVar Miner

List of variants reported as benign for Epidermolysis bullosa dystrophica

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.2817A>G (p.Pro939=) rs1264194 0.74947
NM_000094.4(COL7A1):c.8620+23G>A rs41290684 0.48002
NM_000094.4(COL7A1):c.3139+12G>A rs2255532 0.46226
NM_000094.4(COL7A1):c.5821-61C>T rs9881877 0.15135
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561 0.09897
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247 0.03954
NM_000094.4(COL7A1):c.2587+28C>T rs76683871 0.02616
NM_000094.4(COL7A1):c.2314+15G>A rs144483183 0.02210
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.*65T>C rs74780677 0.01462
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile) rs74453879 0.01453
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000094.4(COL7A1):c.4483-11T>C rs74390291 0.00781
NM_000094.4(COL7A1):c.6217-6C>T rs191559835 0.00648
NM_000094.4(COL7A1):c.5590G>A (p.Ala1864Thr) rs17080261 0.00636
NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822 0.00472
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His) rs2229824 0.00408
NM_000094.4(COL7A1):c.1628G>A (p.Ser543Asn) rs76410546 0.00401
NM_000094.4(COL7A1):c.5307+7G>C rs116455408 0.00347
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=) rs151111203 0.00322
NM_000094.4(COL7A1):c.5154+5T>C rs2854400 0.00317
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883 0.00288
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00113
NM_000094.4(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473 0.00095
NM_000094.4(COL7A1):c.6279+6C>T rs199924999 0.00089
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586 0.00066
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His) rs139014122 0.00057
NM_000094.4(COL7A1):c.4722+11C>T rs145729790 0.00049
NM_000094.4(COL7A1):c.5125-10C>T rs768482060 0.00024
NM_000094.4(COL7A1):c.7687-6C>T rs200429526 0.00024
NM_000094.4(COL7A1):c.3786+15G>A rs373252766 0.00018
NM_000094.4(COL7A1):c.8094C>T (p.Gly2698=) rs199936185 0.00011
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507 0.00010
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=) rs201140493 0.00009
NM_000094.4(COL7A1):c.6538-10G>A rs747313983 0.00003
NM_000094.4(COL7A1):c.*216G>C rs1803298
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His) rs748471791
NM_000094.4(COL7A1):c.3263C>T (p.Pro1088Leu) rs529120446
NM_000094.4(COL7A1):c.6800A>G (p.Lys2267Arg) rs574558938
NM_000094.4(COL7A1):c.7984-7del rs66737445
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC rs138595277

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