ClinVar Miner

List of variants in gene COL7A1 reported as likely benign for Epidermolysis bullosa dystrophica

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile) rs74453879 0.01453
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His) rs2229824 0.00408
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_000094.4(COL7A1):c.8472C>T (p.Ala2824=) rs116591500 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.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_000094.4(COL7A1):c.5125-6C>T rs372345936 0.00284
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=) rs151261530 0.00267
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=) rs146901730 0.00220
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00150
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350 0.00138
NM_000094.4(COL7A1):c.6090C>T (p.Ser2030=) rs200360245 0.00121
NM_000094.4(COL7A1):c.7930-19C>G rs191603815 0.00116
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00113
NM_000094.4(COL7A1):c.1191C>G (p.Thr397=) rs143270071 0.00096
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=) rs148454724 0.00093
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586 0.00066
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=) rs147611409 0.00061
NM_000094.4(COL7A1):c.810G>A (p.Thr270=) rs138770708 0.00052
NM_000094.4(COL7A1):c.4046C>T (p.Pro1349Leu) rs184756277 0.00043
NM_000094.4(COL7A1):c.2449A>G (p.Met817Val) rs147017402 0.00040
NM_000094.4(COL7A1):c.6400C>T (p.Pro2134Ser) rs148638156 0.00031
NM_000094.4(COL7A1):c.7212G>A (p.Gly2404=) rs147925598 0.00028
NM_000094.4(COL7A1):c.6357G>A (p.Pro2119=) rs142298581 0.00023
NM_000094.4(COL7A1):c.1043G>A (p.Arg348Gln) rs200570283 0.00020
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=) rs117723065 0.00019
NM_000094.4(COL7A1):c.2622C>T (p.His874=) rs368634417 0.00018
NM_000094.4(COL7A1):c.3038A>T (p.Gln1013Leu) rs534667037 0.00017
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro) rs755340663 0.00015
NM_000094.4(COL7A1):c.630C>T (p.Leu210=) rs117857033 0.00015
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=) rs144756110 0.00013
NM_000094.4(COL7A1):c.8094C>T (p.Gly2698=) rs199936185 0.00011
NM_000094.4(COL7A1):c.520+9C>T rs368959634 0.00010
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473 0.00010
NM_000094.4(COL7A1):c.3432C>T (p.Tyr1144=) rs199679633 0.00009
NM_000094.4(COL7A1):c.4783-6C>T rs761361407 0.00008
NM_000094.4(COL7A1):c.8238T>C (p.Gly2746=) rs761159131 0.00008
NM_000094.4(COL7A1):c.2340G>A (p.Ser780=) rs747814933 0.00007
NM_000094.4(COL7A1):c.1527C>T (p.Ser509=) rs78149541 0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=) rs142686837 0.00006
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr) rs780506505 0.00006
NM_000094.4(COL7A1):c.8202C>T (p.Gly2734=) rs200292228 0.00005
NM_000094.4(COL7A1):c.3063C>T (p.Gly1021=) rs139371408 0.00004
NM_000094.4(COL7A1):c.3555T>G (p.Leu1185=) rs769937344 0.00004
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=) rs573530168 0.00004
NM_000094.4(COL7A1):c.675C>T (p.Thr225=) rs756726621 0.00004
NM_000094.4(COL7A1):c.903C>T (p.Thr301=) rs369040036 0.00004
NM_000094.4(COL7A1):c.2907C>T (p.Ile969=) rs185999235 0.00003
NM_000094.4(COL7A1):c.4782+9A>T rs369635501 0.00003
NM_000094.4(COL7A1):c.540T>A (p.Pro180=) rs1473537751 0.00003
NM_000094.4(COL7A1):c.6538-5A>G rs182043849 0.00003
NM_000094.4(COL7A1):c.1494C>T (p.Thr498=) rs776229982 0.00002
NM_000094.4(COL7A1):c.1260C>T (p.Thr420=) rs1212593883 0.00001
NM_000094.4(COL7A1):c.1551C>T (p.Thr517=) rs199556963 0.00001
NM_000094.4(COL7A1):c.2124G>A (p.Arg708=) rs760735053 0.00001
NM_000094.4(COL7A1):c.2646G>A (p.Ser882=) rs770229628 0.00001
NM_000094.4(COL7A1):c.2808C>T (p.Val936=) rs1559424416 0.00001
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803 0.00001
NM_000094.4(COL7A1):c.8408-6C>A rs749730480 0.00001
NM_000094.4(COL7A1):c.*162C>T rs545650545
NM_000094.4(COL7A1):c.1032G>C (p.Leu344=) rs946311662
NM_000094.4(COL7A1):c.2050+8C>A rs200654405
NM_000094.4(COL7A1):c.266+2T>C rs561997536
NM_000094.4(COL7A1):c.2817A>T (p.Pro939=) rs1264194
NM_000094.4(COL7A1):c.291T>C (p.Leu97=) rs2107802175
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7984-7del rs66737445
NM_000094.4(COL7A1):c.8010G>T (p.Ser2670=) rs557077483
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser) rs140041143

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