ClinVar Miner

List of variants in gene COL7A1 studied for Epidermolysis bullosa dystrophica inversa, autosomal recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.1383A>G (p.Val461=) rs112805032 0.00414
NM_000094.4(COL7A1):c.5778C>T (p.Leu1926=) rs113151410 0.00384
NM_000094.4(COL7A1):c.683-8A>G rs113167762 0.00363
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_000094.4(COL7A1):c.6937-9C>G rs143589222 0.00323
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.5988C>T (p.Ile1996=) rs146901730 0.00220
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350 0.00138
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.6596C>T (p.Pro2199Leu) rs143221297 0.00061
NM_000094.4(COL7A1):c.5343C>T (p.Ser1781=) rs147919436 0.00057
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=) rs150776274 0.00055
NM_000094.4(COL7A1):c.5769G>A (p.Glu1923=) rs143843471 0.00046
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg) rs73831831 0.00045
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val) rs144825552 0.00044
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg) rs139622306 0.00043
NM_000094.4(COL7A1):c.2544C>T (p.Val848=) rs139545952 0.00041
NM_000094.4(COL7A1):c.2106C>T (p.Val702=) rs75551775 0.00039
NM_000094.4(COL7A1):c.4992A>C (p.Gly1664=) rs139988431 0.00036
NM_000094.4(COL7A1):c.1836G>T (p.Thr612=) rs151186709 0.00035
NM_000094.4(COL7A1):c.2600C>T (p.Pro867Leu) rs191043504 0.00034
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys) rs144557024 0.00034
NM_000094.4(COL7A1):c.8541T>C (p.Pro2847=) rs79473918 0.00034
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His) rs146934952 0.00031
NM_000094.4(COL7A1):c.6936+8T>C rs374882140 0.00030
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile) rs142568125 0.00030
NM_000094.4(COL7A1):c.7825A>G (p.Ile2609Val) rs201839881 0.00029
NM_000094.4(COL7A1):c.8047-4C>T rs185429200 0.00029
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp) rs142059751 0.00026
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met) rs376090628 0.00025
NM_000094.4(COL7A1):c.3277-7A>G rs376192100 0.00025
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=) rs145812249 0.00024
NM_000094.4(COL7A1):c.4636-3C>T rs200981821 0.00024
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys) rs199819125 0.00024
NM_000094.4(COL7A1):c.1241-4G>A rs201605314 0.00021
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val) rs150332158 0.00021
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln) rs150873722 0.00020
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr) rs149342284 0.00019
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=) rs117723065 0.00019
NM_000094.4(COL7A1):c.7758+10G>A rs371927547 0.00019
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met) rs201877942 0.00018
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr) rs143352280 0.00016
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu) rs200138839 0.00016
NM_000094.4(COL7A1):c.3724-6C>T rs370390884 0.00015
NM_000094.4(COL7A1):c.3816C>T (p.Gly1272=) rs138190232 0.00015
NM_000094.4(COL7A1):c.6312T>G (p.Ser2104=) rs142907473 0.00015
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=) rs369839378 0.00014
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu) rs144788938 0.00014
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln) rs201722048 0.00013
NM_000094.4(COL7A1):c.4780C>T (p.Arg1594Trp) rs267599859 0.00012
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu) rs199967174 0.00011
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg) rs200741847 0.00011
NM_000094.4(COL7A1):c.945C>T (p.Ile315=) rs761431565 0.00011
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834 0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp) rs147285396 0.00010
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.6081C>T (p.Pro2027=) rs375047225 0.00010
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808 0.00010
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp) rs138319290 0.00009
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys) rs200802373 0.00009
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000094.4(COL7A1):c.1242C>T (p.Asp414=) rs373138319 0.00008
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn) rs200868430 0.00008
NM_000094.4(COL7A1):c.3937G>A (p.Ala1313Thr) rs778191454 0.00008
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg) rs143037856 0.00008
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser) rs148291967 0.00007
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His) rs369881673 0.00007
NM_000094.4(COL7A1):c.3612G>A (p.Ala1204=) rs762604188 0.00006
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=) rs749814590 0.00006
NM_000094.4(COL7A1):c.447C>T (p.Asp149=) rs372585819 0.00006
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu) rs777472432 0.00006
NM_000094.4(COL7A1):c.4719A>G (p.Glu1573=) rs558405095 0.00006
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=) rs779298653 0.00006
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu) rs199603961 0.00006
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala) rs372838887 0.00006
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys) rs145729761 0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=) rs201728948 0.00006
NM_000094.4(COL7A1):c.761C>T (p.Ala254Val) rs201916805 0.00006
NM_000094.4(COL7A1):c.8064C>T (p.Asp2688=) rs546054756 0.00006
NM_000094.4(COL7A1):c.8322C>T (p.Ala2774=) rs142948995 0.00006
NM_000094.4(COL7A1):c.8819-3C>T rs148536949 0.00006
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=) rs138330564 0.00005
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val) rs574853557 0.00005
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=) rs146903823 0.00005
NM_000094.4(COL7A1):c.4012-9C>T rs763087515 0.00005
NM_000094.4(COL7A1):c.5465C>T (p.Pro1822Leu) rs781197075 0.00005
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His) rs768326843 0.00005
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=) rs377732069 0.00004
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys) rs142108058 0.00004
NM_000094.4(COL7A1):c.2766C>T (p.Asp922=) rs201424023 0.00004
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=) rs548139799 0.00004
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His) rs558424479 0.00004
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser) rs200290149 0.00004
NM_000094.4(COL7A1):c.4391C>T (p.Pro1464Leu) rs763147984 0.00004
NM_000094.4(COL7A1):c.5736+9G>A rs777097228 0.00004
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys) rs765130674 0.00004
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His) rs138626345 0.00004
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys) rs202192755 0.00003
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His) rs765663530 0.00003
NM_000094.4(COL7A1):c.2100A>C (p.Ser700=) rs756201098 0.00003
NM_000094.4(COL7A1):c.2587C>T (p.Pro863Ser) rs757643340 0.00003
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile) rs562548943 0.00003
NM_000094.4(COL7A1):c.4996C>T (p.Arg1666Trp) rs764442838 0.00003
NM_000094.4(COL7A1):c.6188G>A (p.Arg2063Gln) rs2229825 0.00003
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=) rs761393259 0.00003
NM_000094.4(COL7A1):c.6293A>C (p.Glu2098Ala) rs886058635 0.00003
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala) rs772457877 0.00003
NM_000094.4(COL7A1):c.682+1G>A rs775288140 0.00003
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=) rs763764765 0.00003
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874 0.00003
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=) rs748854889 0.00003
NM_000094.4(COL7A1):c.2169C>T (p.His723=) rs147643230 0.00002
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met) rs377763372 0.00002
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=) rs773201784 0.00002
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val) rs546776797 0.00002
NM_000094.4(COL7A1):c.4636-9T>C rs760840151 0.00002
NM_000094.4(COL7A1):c.477T>C (p.Ala159=) rs910778254 0.00002
NM_000094.4(COL7A1):c.5350G>C (p.Asp1784His) rs200632851 0.00002
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000094.4(COL7A1):c.5532+8T>C rs1321882939 0.00002
NM_000094.4(COL7A1):c.5701-10C>T rs1471404340 0.00002
NM_000094.4(COL7A1):c.5913G>T (p.Leu1971=) rs754578634 0.00002
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=) rs934784670 0.00002
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser) rs745939385 0.00002
NM_000094.4(COL7A1):c.7104+1G>A rs772756089 0.00002
NM_000094.4(COL7A1):c.8205C>T (p.Pro2735=) rs535006469 0.00002
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His) rs768672251 0.00001
NM_000094.4(COL7A1):c.1561G>A (p.Gly521Arg) rs1383489466 0.00001
NM_000094.4(COL7A1):c.1717G>C (p.Val573Leu) rs1286113919 0.00001
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp) rs200762860 0.00001
NM_000094.4(COL7A1):c.2064A>G (p.Pro688=) rs774502545 0.00001
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=) rs549271654 0.00001
NM_000094.4(COL7A1):c.2315-3C>T rs1042769826 0.00001
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser) rs773229775 0.00001
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His) rs540205999 0.00001
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp) rs763751979 0.00001
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val) rs973642161 0.00001
NM_000094.4(COL7A1):c.3136C>A (p.Pro1046Thr) rs374283870 0.00001
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=) rs778777140 0.00001
NM_000094.4(COL7A1):c.3831+3G>A rs767241808 0.00001
NM_000094.4(COL7A1):c.3888C>T (p.Gly1296=) rs375511803 0.00001
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys) rs565472139 0.00001
NM_000094.4(COL7A1):c.4214G>A (p.Arg1405His) rs2045011505 0.00001
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=) rs749738987 0.00001
NM_000094.4(COL7A1):c.4635+10G>A rs749722600 0.00001
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847 0.00001
NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln) rs1028574312 0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.5387A>G (p.Asn1796Ser) rs973076467 0.00001
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=) rs776433840 0.00001
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=) rs371009419 0.00001
NM_000094.4(COL7A1):c.573C>G (p.Thr191=) rs776540069 0.00001
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=) rs763329165 0.00001
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu) rs377112899 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.6280-8G>A rs1343979395 0.00001
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=) rs199843749 0.00001
NM_000094.4(COL7A1):c.6457-3C>T rs1175388777 0.00001
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met) rs757102252 0.00001
NM_000094.4(COL7A1):c.6943C>G (p.Pro2315Ala) rs1434362269 0.00001
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=) rs1054273238 0.00001
NM_000094.4(COL7A1):c.6977C>A (p.Pro2326Gln) rs763000800 0.00001
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) rs121912854 0.00001
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu) rs750113696 0.00001
NM_000094.4(COL7A1):c.7595G>A (p.Arg2532Gln) rs755230641 0.00001
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216 0.00001
NM_000094.4(COL7A1):c.7763A>C (p.Gln2588Pro) rs1233028552 0.00001
NM_000094.4(COL7A1):c.8216A>C (p.Gln2739Pro) rs771892535 0.00001
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln) rs377182638 0.00001
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=) rs751768659 0.00001
NM_000094.4(COL7A1):c.8817A>G (p.Thr2939=) rs766321543 0.00001
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=) rs200882719
NM_000094.4(COL7A1):c.1532T>C (p.Val511Ala) rs2045702024
NM_000094.4(COL7A1):c.2178G>T (p.Glu726Asp) rs777401461
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=) rs1388911281
NM_000094.4(COL7A1):c.2445C>G (p.Gly815=) rs2045479336
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn) rs538387822
NM_000094.4(COL7A1):c.2553C>A (p.Arg851=) rs577279100
NM_000094.4(COL7A1):c.2634C>T (p.Arg878=) rs201412774
NM_000094.4(COL7A1):c.2729G>T (p.Arg910Leu) rs373718618
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=) rs748086542
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=) rs142681592
NM_000094.4(COL7A1):c.279C>T (p.Gly93=) rs745864625
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His) rs570498790
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val) rs767643638
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr) rs143245957
NM_000094.4(COL7A1):c.3551-3T>G rs773263825
NM_000094.4(COL7A1):c.3731C>T (p.Pro1244Leu) rs2045223332
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe) rs2045195228
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.3929C>T (p.Pro1310Leu) rs2045143069
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=) rs141825319
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp) rs769297158
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=) rs144700737
NM_000094.4(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.4(COL7A1):c.5271+6T>C rs2044571216
NM_000094.4(COL7A1):c.5352T>C (p.Asp1784=) rs2044549084
NM_000094.4(COL7A1):c.5425-6_5425-5del rs762085901
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.5626G>C (p.Glu1876Gln) rs930473908
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
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.6270T>G (p.Pro2090=) rs2044195363
NM_000094.4(COL7A1):c.642A>T (p.Arg214Ser) rs2045831596
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.4(COL7A1):c.7080G>A (p.Gly2360=) rs768904830
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.7215C>T (p.Phe2405=) rs779587550
NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln) rs369221071
NM_000094.4(COL7A1):c.7485+6del rs1339353383
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=) rs199936185
NM_000094.4(COL7A1):c.831G>A (p.Pro277=) rs749004650
NM_000094.4(COL7A1):c.8479C>T (p.Gln2827Ter) rs387906604
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala) rs140041143
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys) rs372166543
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe) rs903839030
NM_000094.4(COL7A1):c.887del (p.Gly296fs) rs1131691385

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.