ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP
NM_000094.3(COL7A1):c.1098G>A (p.Gly366=) rs150776274
NM_000094.3(COL7A1):c.1383A>G (p.Val461=) rs112805032
NM_000094.3(COL7A1):c.1836G>T (p.Thr612=) rs151186709
NM_000094.3(COL7A1):c.2106C>T (p.Val702=) rs75551775
NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834
NM_000094.3(COL7A1):c.2544C>T (p.Val848=) rs139545952
NM_000094.3(COL7A1):c.2600C>T (p.Pro867Leu) rs191043504
NM_000094.3(COL7A1):c.2634C>T (p.Arg878=) rs201412774
NM_000094.3(COL7A1):c.2766C>T (p.Asp922=) rs201424023
NM_000094.3(COL7A1):c.3277-7A>G rs376192100
NM_000094.3(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563
NM_000094.3(COL7A1):c.3551-3T>G rs773263825
NM_000094.3(COL7A1):c.3612G>A (p.Ala1204=) rs762604188
NM_000094.3(COL7A1):c.3816C>T (p.Gly1272=) rs138190232
NM_000094.3(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.3(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350
NM_000094.3(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803
NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904
NM_000094.3(COL7A1):c.4068C>T (p.Ile1356=) rs146913953
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.4719A>G (p.Glu1573=) rs558405095
NM_000094.3(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847
NM_000094.3(COL7A1):c.4992A>C (p.Gly1664=) rs139988431
NM_000094.3(COL7A1):c.5058C>T (p.Ser1686=) rs144700737
NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.3(COL7A1):c.5343C>T (p.Ser1781=) rs147919436
NM_000094.3(COL7A1):c.54G>C (p.Ala18=) rs35899847
NM_000094.3(COL7A1):c.5532+1G>A rs767182886
NM_000094.3(COL7A1):c.573C>G (p.Thr191=) rs776540069
NM_000094.3(COL7A1):c.5769G>A (p.Glu1923=) rs143843471
NM_000094.3(COL7A1):c.5778C>T (p.Leu1926=) rs113151410
NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000094.3(COL7A1):c.5988C>T (p.Ile1996=) rs146901730
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000094.3(COL7A1):c.6081C>T (p.Pro2027=) rs375047225
NM_000094.3(COL7A1):c.6188G>A (p.Arg2063Gln) rs2229825
NM_000094.3(COL7A1):c.6280-8G>A rs1343979395
NM_000094.3(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000094.3(COL7A1):c.683-8A>G rs113167762
NM_000094.3(COL7A1):c.6936+8T>C rs374882140
NM_000094.3(COL7A1):c.6937-9C>G rs143589222
NM_000094.3(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.3(COL7A1):c.7008G>A (p.Gly2336=) rs117723065
NM_000094.3(COL7A1):c.7080G>A (p.Gly2360=) rs768904830
NM_000094.3(COL7A1):c.7104+1G>A rs772756089
NM_000094.3(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) rs201728948
NM_000094.3(COL7A1):c.761C>T (p.Ala254Val) rs201916805
NM_000094.3(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216
NM_000094.3(COL7A1):c.7758+10G>A rs371927547
NM_000094.3(COL7A1):c.802C>T (p.Pro268Ser) rs35623035
NM_000094.3(COL7A1):c.8047-4C>T rs185429200
NM_000094.3(COL7A1):c.8064C>T (p.Asp2688=) rs546054756
NM_000094.3(COL7A1):c.8205C>T (p.Pro2735=) rs535006469
NM_000094.3(COL7A1):c.8322C>T (p.Ala2774=) rs142948995
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000094.3(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874
NM_000094.3(COL7A1):c.8479C>T (p.Gln2827Ter) rs387906604
NM_000094.3(COL7A1):c.8541T>C (p.Pro2847=) rs79473918
NM_000094.3(COL7A1):c.945C>T (p.Ile315=) rs761431565
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
NM_000094.4(COL7A1):c.1241-4G>A
NM_000094.4(COL7A1):c.1242C>T rs373138319
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
NM_000094.4(COL7A1):c.1495G>A rs201877942
NM_000094.4(COL7A1):c.1532T>C (p.Val511Ala)
NM_000094.4(COL7A1):c.1561G>A (p.Gly521Arg)
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)
NM_000094.4(COL7A1):c.1717G>C (p.Val573Leu)
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=)
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg)
NM_000094.4(COL7A1):c.2064A>G (p.Pro688=)
NM_000094.4(COL7A1):c.2100A>C rs756201098
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)
NM_000094.4(COL7A1):c.2169C>T (p.His723=)
NM_000094.4(COL7A1):c.2178G>T (p.Glu726Asp)
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)
NM_000094.4(COL7A1):c.2315-3C>T
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)
NM_000094.4(COL7A1):c.2445C>G (p.Gly815=)
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)
NM_000094.4(COL7A1):c.2553C>A rs577279100
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)
NM_000094.4(COL7A1):c.2587C>T (p.Pro863Ser)
NM_000094.4(COL7A1):c.2729G>T (p.Arg910Leu)
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val)
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)
NM_000094.4(COL7A1):c.3136C>A (p.Pro1046Thr)
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)
NM_000094.4(COL7A1):c.3724-6C>T
NM_000094.4(COL7A1):c.3731C>T (p.Pro1244Leu)
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
NM_000094.4(COL7A1):c.3809C>T rs145068043
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe)
NM_000094.4(COL7A1):c.3831+3G>A
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=)
NM_000094.4(COL7A1):c.3888C>T (p.Gly1296=)
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
NM_000094.4(COL7A1):c.3929C>T (p.Pro1310Leu)
NM_000094.4(COL7A1):c.3937G>A (p.Ala1313Thr)
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
NM_000094.4(COL7A1):c.4012-9C>T
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys)
NM_000094.4(COL7A1):c.4214G>A (p.Arg1405His)
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=)
NM_000094.4(COL7A1):c.4287C>T rs749814590
NM_000094.4(COL7A1):c.4391C>T (p.Pro1464Leu)
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val)
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)
NM_000094.4(COL7A1):c.4635+10G>A
NM_000094.4(COL7A1):c.4636-3C>T
NM_000094.4(COL7A1):c.4636-9T>C rs760840151
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg)
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)
NM_000094.4(COL7A1):c.4780C>T
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)
NM_000094.4(COL7A1):c.4996C>T (p.Arg1666Trp)
NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln)
NM_000094.4(COL7A1):c.5047C>T rs760063197
NM_000094.4(COL7A1):c.5271+6T>C
NM_000094.4(COL7A1):c.5350G>C (p.Asp1784His)
NM_000094.4(COL7A1):c.5352T>C (p.Asp1784=)
NM_000094.4(COL7A1):c.5387A>G (p.Asn1796Ser)
NM_000094.4(COL7A1):c.5425-6_5425-5delTT rs762085901
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
NM_000094.4(COL7A1):c.5459C>G rs143037856
NM_000094.4(COL7A1):c.5465C>T (p.Pro1822Leu)
NM_000094.4(COL7A1):c.5532+8T>C
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
NM_000094.4(COL7A1):c.5626G>C (p.Glu1876Gln)
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
NM_000094.4(COL7A1):c.5701-10C>T
NM_000094.4(COL7A1):c.5736+9G>A rs777097228
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln)
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
NM_000094.4(COL7A1):c.5913G>T rs754578634
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu)
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser)
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
NM_000094.4(COL7A1):c.6205C>T rs121912855
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)
NM_000094.4(COL7A1):c.6270T>A (p.Pro2090=)
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
NM_000094.4(COL7A1):c.6293A>C rs886058635
NM_000094.4(COL7A1):c.6312T>G (p.Ser2104=)
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
NM_000094.4(COL7A1):c.642A>T (p.Arg214Ser)
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
NM_000094.4(COL7A1):c.6457-3C>T
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
NM_000094.4(COL7A1):c.6527dupC rs768128088
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
NM_000094.4(COL7A1):c.6943C>G (p.Pro2315Ala)
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=)
NM_000094.4(COL7A1):c.6977C>A (p.Pro2326Gln)
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys)
NM_000094.4(COL7A1):c.706C>T rs121912854
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
NM_000094.4(COL7A1):c.7191C>T rs34360255
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu)
NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln)
NM_000094.4(COL7A1):c.7417G>A rs199819125
NM_000094.4(COL7A1):c.7485+6del
NM_000094.4(COL7A1):c.7595G>A (p.Arg2532Gln)
NM_000094.4(COL7A1):c.7763A>C (p.Gln2588Pro)
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
NM_000094.4(COL7A1):c.7825A>G (p.Ile2609Val)
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)
NM_000094.4(COL7A1):c.8216A>C (p.Gln2739Pro)
NM_000094.4(COL7A1):c.8234G>A rs377182638
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe)
NM_000094.4(COL7A1):c.8817A>G (p.Thr2939=)
NM_000094.4(COL7A1):c.8819-3C>T rs148536949
NM_000094.4(COL7A1):c.887delG rs1131691385

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