ClinVar Miner

List of variants in gene COL7A1 reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 132
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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.1784C>T (p.Pro595Leu) rs2228561 0.09897
NM_000094.4(COL7A1):c.8620+17_8620+18insTGC rs35631233 0.05263
NM_000094.4(COL7A1):c.8305-20G>C rs17256786 0.05213
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.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.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 0.00777
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.1907G>T (p.Gly636Val) rs116005007 0.00425
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.1383A>G (p.Val461=) rs112805032 0.00385
NM_000094.4(COL7A1):c.5778C>T (p.Leu1926=) rs113151410 0.00384
NM_000094.4(COL7A1):c.3759+16C>T rs185689852 0.00350
NM_000094.4(COL7A1):c.5307+7G>C rs116455408 0.00347
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_000094.4(COL7A1):c.683-8A>G rs113167762 0.00337
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=) rs151111203 0.00322
NM_000094.4(COL7A1):c.6937-9C>G rs143589222 0.00305
NM_000094.4(COL7A1):c.8472C>T (p.Ala2824=) rs116591500 0.00299
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883 0.00288
NM_000094.4(COL7A1):c.5125-6C>T rs372345936 0.00284
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.2441-18G>A rs115504500 0.00274
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.4373C>T (p.Pro1458Leu) rs79378857 0.00141
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.5737-17G>T rs150337561 0.00117
NM_000094.4(COL7A1):c.7930-19C>G rs191603815 0.00116
NM_000094.4(COL7A1):c.4068C>T (p.Ile1356=) rs146913953 0.00111
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000094.4(COL7A1):c.1191C>G (p.Thr397=) rs143270071 0.00096
NM_000094.4(COL7A1):c.5388+20C>T rs200931039 0.00096
NM_000094.4(COL7A1):c.6279+6C>T rs199924999 0.00089
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=) rs148454724 0.00086
NM_000094.4(COL7A1):c.7313C>G (p.Pro2438Arg) rs185142403 0.00080
NM_000094.4(COL7A1):c.7353T>C (p.Pro2451=) rs139461888 0.00076
NM_000094.4(COL7A1):c.3786+15G>A rs373252766 0.00062
NM_000094.4(COL7A1):c.5343C>T (p.Ser1781=) rs147919436 0.00057
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His) rs139014122 0.00056
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=) rs150776274 0.00055
NM_000094.4(COL7A1):c.4818+11G>A rs199647542 0.00054
NM_000094.4(COL7A1):c.4722+11C>T rs145729790 0.00049
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00049
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=) rs117723065 0.00038
NM_000094.4(COL7A1):c.1836G>T (p.Thr612=) rs151186709 0.00035
NM_000094.4(COL7A1):c.6357G>A (p.Pro2119=) rs142298581 0.00034
NM_000094.4(COL7A1):c.8047-4C>T rs185429200 0.00029
NM_000094.4(COL7A1):c.5235+19C>T rs2070771 0.00028
NM_000094.4(COL7A1):c.7687-6C>T rs200429526 0.00024
NM_000094.4(COL7A1):c.2766C>T (p.Asp922=) rs201424023 0.00021
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val) rs150332158 0.00021
NM_000094.4(COL7A1):c.630C>T (p.Leu210=) rs117857033 0.00020
NM_000094.4(COL7A1):c.8808C>G (p.Ser2936Arg) rs138568420 0.00020
NM_000094.4(COL7A1):c.6502-10C>G rs200193957 0.00018
NM_000094.4(COL7A1):c.3199C>T (p.His1067Tyr) rs200562295 0.00013
NM_000094.4(COL7A1):c.427-14T>C rs552110604 0.00013
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln) rs201722048 0.00013
NM_000094.4(COL7A1):c.830C>T (p.Pro277Leu) rs188978813 0.00013
NM_000094.4(COL7A1):c.4819-19C>T rs371699045 0.00011
NM_000094.4(COL7A1):c.5986A>G (p.Ile1996Val) rs771271966 0.00011
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808 0.00011
NM_000094.4(COL7A1):c.8094C>T (p.Gly2698=) rs199936185 0.00011
NM_000094.4(COL7A1):c.1527C>T (p.Ser509=) rs78149541 0.00010
NM_000094.4(COL7A1):c.6081C>T (p.Pro2027=) rs375047225 0.00010
NM_000094.4(COL7A1):c.1895G>A (p.Ser632Asn) rs757193272 0.00009
NM_000094.4(COL7A1):c.6388G>A (p.Asp2130Asn) rs375909549 0.00009
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=) rs201140493 0.00009
NM_000094.4(COL7A1):c.7614+20G>T rs544920947 0.00008
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp) rs138319290 0.00007
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser) rs148291967 0.00007
NM_000094.4(COL7A1):c.3194A>G (p.Asn1065Ser) rs200159826 0.00007
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His) rs369881673 0.00007
NM_000094.4(COL7A1):c.2851C>T (p.Arg951Cys) rs143593422 0.00006
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val) rs574853557 0.00006
NM_000094.4(COL7A1):c.4517G>A (p.Arg1506Gln) rs372793584 0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=) rs142686837 0.00006
NM_000094.4(COL7A1):c.5125-10C>T rs768482060 0.00006
NM_000094.4(COL7A1):c.3412G>A (p.Val1138Met) rs145048666 0.00005
NM_000094.4(COL7A1):c.5568+15C>G rs575815442 0.00005
NM_000094.4(COL7A1):c.1166C>T (p.Thr389Met) rs371145958 0.00004
NM_000094.4(COL7A1):c.8473G>A (p.Gly2825Ser) rs139308059 0.00004
NM_000094.4(COL7A1):c.3976-14G>T rs755293317 0.00003
NM_000094.4(COL7A1):c.5913G>T (p.Leu1971=) rs754578634 0.00003
NM_000094.4(COL7A1):c.8017C>T (p.Pro2673Ser) rs781478312 0.00003
NM_000094.4(COL7A1):c.2849C>T (p.Ala950Val) rs373686143 0.00002
NM_000094.4(COL7A1):c.6216+19C>T rs528874430 0.00002
NM_000094.4(COL7A1):c.2888G>A (p.Arg963His) rs776204399 0.00001
NM_000094.4(COL7A1):c.4048-15T>A rs367995901 0.00001
NM_000094.4(COL7A1):c.7529T>C (p.Val2510Ala) rs373852057 0.00001
NM_000094.4(COL7A1):c.8408-6C>A rs749730480 0.00001
NM_000094.4(COL7A1):c.992C>T (p.Pro331Leu) rs145497414 0.00001
NM_000094.4(COL7A1):c.2050+16del rs2531289396
NM_000094.4(COL7A1):c.2635G>C (p.Gly879Arg) rs199871941
NM_000094.4(COL7A1):c.2791C>A (p.Arg931Ser) rs143979792
NM_000094.4(COL7A1):c.4198-5del rs2531158882
NM_000094.4(COL7A1):c.4279-17del rs1560240926
NM_000094.4(COL7A1):c.4342-18C>A rs188592093
NM_000094.4(COL7A1):c.5307+17del rs1486454099
NM_000094.4(COL7A1):c.5926C>G (p.Arg1976Gly) rs143307229
NM_000094.4(COL7A1):c.6574-7del rs2107663421
NM_000094.4(COL7A1):c.6937-12_6937-11dup rs2043989608
NM_000094.4(COL7A1):c.6937-12dup rs2043989608
NM_000094.4(COL7A1):c.7068+12dup rs2530891395
NM_000094.4(COL7A1):c.7164+15del rs1200847170
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7273-14del rs1197263931
NM_000094.4(COL7A1):c.7273-8dup
NM_000094.4(COL7A1):c.7521+14dup rs1381031436
NM_000094.4(COL7A1):c.7558-5dup rs1350579035
NM_000094.4(COL7A1):c.7984-7del rs66737445
NM_000094.4(COL7A1):c.7984-8_7984-7del rs66737445
NM_000094.4(COL7A1):c.8041C>A (p.Pro2681Thr) rs139416346
NM_000094.4(COL7A1):c.8524_8527+10del rs566181351
NM_000094.4(COL7A1):c.8620+14del rs1400184068
NM_000094.4(COL7A1):c.8620+14dup rs1400184068
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC rs138595277

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