ClinVar Miner

List of variants reported as uncertain significance for Epidermolysis bullosa dystrophica inversa, autosomal recessive

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ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu) rs143221297 0.00061
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg) rs73831831 0.00045
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys) rs144557024 0.00034
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His) rs146934952 0.00031
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile) rs142568125 0.00030
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.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.4987C>A (p.Pro1663Thr) rs149342284 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.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.2392G>A (p.Gly798Arg) rs202237834 0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp) rs147285396 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.1604C>A (p.Thr535Asn) rs200868430 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.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.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.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.1167G>A (p.Thr389=) rs377732069 0.00004
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys) rs142108058 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.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.8289C>T (p.Gly2763=) rs763764765 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.6045G>A (p.Gly2015=) rs934784670 0.00002
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser) rs745939385 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.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.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.4997G>A (p.Arg1666Gln) rs1028574312 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.6075C>T (p.Gly2025=) rs763329165 0.00001
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu) rs377112899 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.7334C>T (p.Pro2445Leu) rs750113696 0.00001
NM_000094.4(COL7A1):c.7595G>A (p.Arg2532Gln) rs755230641 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.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.3731C>T (p.Pro1244Leu) rs2045223332
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe) rs2045195228
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.5271+6T>C rs2044571216
NM_000094.4(COL7A1):c.5352T>C (p.Asp1784=) rs2044549084
NM_000094.4(COL7A1):c.5403A>G (p.Lys1801=) rs1575449774
NM_000094.4(COL7A1):c.5425-6_5425-5del rs762085901
NM_000094.4(COL7A1):c.5626G>C (p.Glu1876Gln) rs930473908
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.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.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

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