ClinVar Miner

List of variants in gene FANCD2, FANCD2OS studied for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.4281+172G>A rs7626117 0.35108
NM_001018115.3(FANCD2):c.4281+685C>T rs11716842 0.30572
NM_001018115.3(FANCD2):c.3849+13A>G rs9811771 0.25616
NM_001018115.3(FANCD2):c.4281+197A>G rs7647987 0.24912
NM_001018115.3(FANCD2):c.4281+566T>G rs3826 0.24892
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=) rs2272125 0.24889
NM_001018115.3(FANCD2):c.4185+33T>C rs2272124 0.24884
NM_001018115.3(FANCD2):c.4281+673G>A rs9862958 0.08846
NM_001018115.3(FANCD2):c.4281+270A>G rs17032386 0.03356
NM_001018115.3(FANCD2):c.4281+398G>C rs34092072 0.00225
NM_001018115.3(FANCD2):c.4281+115C>A rs78896323 0.00179
NM_001018115.3(FANCD2):c.3560+20C>T rs55804542 0.00162
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile) rs138398760 0.00057
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_001018115.3(FANCD2):c.4281+355A>G rs770674504 0.00039
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121 0.00034
NM_001018115.3(FANCD2):c.4281+597C>T rs548255173 0.00029
NM_001018115.3(FANCD2):c.3654A>G (p.Ala1218=) rs556548817 0.00022
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) rs745841768 0.00015
NM_001018115.3(FANCD2):c.4281+81G>A rs145889419 0.00011
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=) rs375929975 0.00009
NM_001018115.3(FANCD2):c.4281+37G>A rs376442380 0.00008
NM_001018115.3(FANCD2):c.3642T>A (p.Ser1214=) rs538250317 0.00007
NM_001018115.3(FANCD2):c.3964-19A>G rs200544843 0.00007
NM_001018115.3(FANCD2):c.4281+328G>T rs1231972897 0.00007
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln) rs755748094 0.00006
NM_001018115.3(FANCD2):c.4186-13C>T rs755767180 0.00006
NM_001018115.3(FANCD2):c.4281+257C>T rs886057694 0.00006
NM_001018115.3(FANCD2):c.3778-20C>T rs751107447 0.00005
NM_001018115.3(FANCD2):c.3850-17G>T rs369702202 0.00005
NM_001018115.3(FANCD2):c.4296C>T (p.Asp1432=) rs202028246 0.00005
NM_001018115.3(FANCD2):c.3106-13T>G rs759732362 0.00004
NM_001018115.3(FANCD2):c.3193C>T (p.Leu1065=) rs1267933900 0.00004
NM_001018115.3(FANCD2):c.3276T>C (p.His1092=) rs773833838 0.00004
NM_001018115.3(FANCD2):c.3334A>G (p.Ser1112Gly) rs139929432 0.00004
NM_001018115.3(FANCD2):c.3343G>A (p.Val1115Ile) rs200800132 0.00004
NM_001018115.3(FANCD2):c.3483A>G (p.Gln1161=) rs143403347 0.00004
NM_001018115.3(FANCD2):c.3735G>A (p.Thr1245=) rs750130327 0.00004
NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His) rs781701459 0.00004
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met) rs775898191 0.00004
NM_001018115.3(FANCD2):c.4186-5T>C rs763801603 0.00004
NM_001018115.3(FANCD2):c.4281+107T>C rs767893462 0.00004
NM_001018115.3(FANCD2):c.4281+534G>A rs886057696 0.00004
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu) rs759516610 0.00003
NM_001018115.3(FANCD2):c.3419T>G (p.Val1140Gly) rs781064333 0.00003
NM_001018115.3(FANCD2):c.3466+9C>G rs33998487 0.00003
NM_001018115.3(FANCD2):c.3524G>A (p.Ser1175Asn) rs151316403 0.00003
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met) rs555539811 0.00003
NM_001018115.3(FANCD2):c.4214A>T (p.Gln1405Leu) rs746871581 0.00003
NM_001018115.3(FANCD2):c.3106T>A (p.Cys1036Ser) rs767901156 0.00002
NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser) rs142238966 0.00002
NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu) rs751027444 0.00002
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly) rs1371349116 0.00002
NM_001018115.3(FANCD2):c.3389G>A (p.Cys1130Tyr) rs750409411 0.00002
NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly) rs369405673 0.00002
NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val) rs752815037 0.00002
NM_001018115.3(FANCD2):c.3493C>T (p.Arg1165Trp) rs759348779 0.00002
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu) rs760823688 0.00002
NM_001018115.3(FANCD2):c.3683+19C>T rs377723227 0.00002
NM_001018115.3(FANCD2):c.3684-9G>A rs748312392 0.00002
NM_001018115.3(FANCD2):c.3692T>C (p.Phe1231Ser) rs762915519 0.00002
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864 0.00002
NM_001018115.3(FANCD2):c.3778-15A>G rs755821273 0.00002
NM_001018115.3(FANCD2):c.3808A>G (p.Met1270Val) rs587778333 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser) rs781605384 0.00002
NM_001018115.3(FANCD2):c.3871C>T (p.Leu1291=) rs771698231 0.00002
NM_001018115.3(FANCD2):c.3895C>T (p.Arg1299Cys) rs555348798 0.00002
NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg) rs746501818 0.00002
NM_001018115.3(FANCD2):c.3964-10T>C rs2302844 0.00002
NM_001018115.3(FANCD2):c.4053G>A (p.Thr1351=) rs760800033 0.00002
NM_001018115.3(FANCD2):c.4175G>A (p.Arg1392Gln) rs1334082637 0.00002
NM_001018115.3(FANCD2):c.4209T>C (p.Asn1403=) rs758210208 0.00002
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) rs552885346 0.00001
NM_001018115.3(FANCD2):c.3222T>C (p.Ala1074=) rs1238683323 0.00001
NM_001018115.3(FANCD2):c.3224+13G>C rs764386433 0.00001
NM_001018115.3(FANCD2):c.3224+8T>A rs1412513898 0.00001
NM_001018115.3(FANCD2):c.3225-13T>C rs996065278 0.00001
NM_001018115.3(FANCD2):c.3248A>G (p.Asn1083Ser) rs1180577651 0.00001
NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=) rs759252565 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.3313C>G (p.Gln1105Glu) rs1694168766 0.00001
NM_001018115.3(FANCD2):c.3347A>G (p.His1116Arg) rs548876750 0.00001
NM_001018115.3(FANCD2):c.3400C>T (p.Leu1134Phe) rs587778332 0.00001
NM_001018115.3(FANCD2):c.3416T>C (p.Met1139Thr) rs755205321 0.00001
NM_001018115.3(FANCD2):c.3418G>A (p.Val1140Ile) rs988476435 0.00001
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=) rs533541893 0.00001
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=) rs570459552 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser) rs764205355 0.00001
NM_001018115.3(FANCD2):c.3543G>A (p.Gln1181=) rs138409505 0.00001
NM_001018115.3(FANCD2):c.3549T>C (p.His1183=) rs758749466 0.00001
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=) rs745765337 0.00001
NM_001018115.3(FANCD2):c.3561-4G>T rs1694400747 0.00001
NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe) rs373757862 0.00001
NM_001018115.3(FANCD2):c.3638A>G (p.Asn1213Ser) rs771903324 0.00001
NM_001018115.3(FANCD2):c.3639C>G (p.Asn1213Lys) rs780098296 0.00001
NM_001018115.3(FANCD2):c.3645T>A (p.Pro1215=) rs1168183069 0.00001
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu) rs367552677 0.00001
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=) rs760054945 0.00001
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala) rs767806932 0.00001
NM_001018115.3(FANCD2):c.3751C>G (p.Pro1251Ala) rs568515612 0.00001
NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu) rs374940277 0.00001
NM_001018115.3(FANCD2):c.3772C>G (p.Gln1258Glu) rs994778998 0.00001
NM_001018115.3(FANCD2):c.3775C>A (p.Gln1259Lys) rs1407465957 0.00001
NM_001018115.3(FANCD2):c.3777+1G>T rs1434069831 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_001018115.3(FANCD2):c.3888+2T>G rs1419879344 0.00001
NM_001018115.3(FANCD2):c.3963+11A>G rs945877549 0.00001
NM_001018115.3(FANCD2):c.3963+8C>T rs201623111 0.00001
NM_001018115.3(FANCD2):c.4047G>A (p.Gln1349=) rs370343891 0.00001
NM_001018115.3(FANCD2):c.4048G>A (p.Asp1350Asn) rs772169028 0.00001
NM_001018115.3(FANCD2):c.4056A>G (p.Arg1352=) rs1336906399 0.00001
NM_001018115.3(FANCD2):c.4133A>G (p.Asn1378Ser) rs1452379242 0.00001
NM_001018115.3(FANCD2):c.4137T>A (p.Asn1379Lys) rs752376206 0.00001
NM_001018115.3(FANCD2):c.4140T>C (p.Cys1380=) rs954149471 0.00001
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser) rs745472884 0.00001
NM_001018115.3(FANCD2):c.4177G>A (p.Asp1393Asn) rs1273669064 0.00001
NM_001018115.3(FANCD2):c.4185+20A>G rs770768796 0.00001
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys) rs753272541 0.00001
NM_001018115.3(FANCD2):c.4196T>C (p.Ile1399Thr) rs1369071910 0.00001
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp) rs61753270 0.00001
NM_001018115.3(FANCD2):c.4281+121C>T rs764865805 0.00001
NM_001018115.3(FANCD2):c.4281+179C>T rs370459744 0.00001
NM_001018115.3(FANCD2):c.4281+22_4281+29del rs878855172 0.00001
NM_001018115.3(FANCD2):c.4281+42C>T rs1415649585 0.00001
NM_001018115.3(FANCD2):c.4281+525A>G rs886057695 0.00001
NM_001018115.3(FANCD2):c.4281+562C>A rs550613588 0.00001
NM_001018115.3(FANCD2):c.4281+69G>A rs754606069 0.00001
NM_001018115.3(FANCD2):c.4281+71G>A rs568997706 0.00001
NM_001018115.3(FANCD2):c.4281+77C>T rs748421381 0.00001
NM_001018115.3(FANCD2):c.4281+91G>A rs771414227 0.00001
NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys) rs755911397 0.00001
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(?_10070342)_(10140634_?)del
NC_000003.11:g.(?_10091048)_(10140634_?)del
NC_000003.11:g.(?_10127476)_(10136978_?)del
NC_000003.11:g.(?_10127486)_(10140634_?)dup
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NC_000003.11:g.(?_10130113)_(10133956_?)del
NC_000003.11:g.(?_10132039)_(10132856_?)del
NC_000003.11:g.(?_10138000)_(10140634_?)del
NC_000003.12:g.(?_10090282)_(10098950_?)dup
NM_001018115.3(FANCD2):c.3106-13T>C
NM_001018115.3(FANCD2):c.3106-14A>C
NM_001018115.3(FANCD2):c.3106-14A>G
NM_001018115.3(FANCD2):c.3106-15C>A
NM_001018115.3(FANCD2):c.3106-15C>G
NM_001018115.3(FANCD2):c.3106-15C>T
NM_001018115.3(FANCD2):c.3106-19A>T
NM_001018115.3(FANCD2):c.3108T>C (p.Cys1036=)
NM_001018115.3(FANCD2):c.3139G>A (p.Gly1047Arg) rs1693825081
NM_001018115.3(FANCD2):c.3151A>G (p.Lys1051Glu) rs2125060028
NM_001018115.3(FANCD2):c.3155T>A (p.Val1052Asp)
NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)
NM_001018115.3(FANCD2):c.3169A>G (p.Ile1057Val)
NM_001018115.3(FANCD2):c.3181T>C (p.Cys1061Arg) rs1693827482
NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs) rs2125060144
NM_001018115.3(FANCD2):c.3195G>A (p.Leu1065=)
NM_001018115.3(FANCD2):c.3197T>C (p.Leu1066Pro)
NM_001018115.3(FANCD2):c.3201G>T (p.Gln1067His)
NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr) rs2125060186
NM_001018115.3(FANCD2):c.3208C>G (p.His1070Asp) rs201184977
NM_001018115.3(FANCD2):c.3208C>T (p.His1070Tyr)
NM_001018115.3(FANCD2):c.3209A>C (p.His1070Pro)
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg) rs759516610
NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs) rs1575824608
NM_001018115.3(FANCD2):c.3224+10T>C
NM_001018115.3(FANCD2):c.3224+11G>A
NM_001018115.3(FANCD2):c.3224+1G>C
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3224+7A>G
NM_001018115.3(FANCD2):c.3224+8T>C
NM_001018115.3(FANCD2):c.3225-10A>G
NM_001018115.3(FANCD2):c.3225-14C>G
NM_001018115.3(FANCD2):c.3225-16A>T
NM_001018115.3(FANCD2):c.3225-17T>C
NM_001018115.3(FANCD2):c.3225-4T>G
NM_001018115.3(FANCD2):c.3225-6_3225-3del
NM_001018115.3(FANCD2):c.3225-9C>T
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
NM_001018115.3(FANCD2):c.3240A>G (p.Gln1080=) rs1694161718
NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)
NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)
NM_001018115.3(FANCD2):c.3252G>A (p.Gln1084=)
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)
NM_001018115.3(FANCD2):c.3274C>T (p.His1092Tyr)
NM_001018115.3(FANCD2):c.3279C>A (p.Val1093=)
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
NM_001018115.3(FANCD2):c.3291A>C (p.Arg1097=)
NM_001018115.3(FANCD2):c.3292C>A (p.Leu1098Met)
NM_001018115.3(FANCD2):c.3292C>T (p.Leu1098=)
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
NM_001018115.3(FANCD2):c.3306A>C (p.Glu1102Asp)
NM_001018115.3(FANCD2):c.3319T>G (p.Leu1107Val)
NM_001018115.3(FANCD2):c.3323A>G (p.Glu1108Gly)
NM_001018115.3(FANCD2):c.3325G>A (p.Glu1109Lys)
NM_001018115.3(FANCD2):c.3335+11A>G
NM_001018115.3(FANCD2):c.3335+16A>G
NM_001018115.3(FANCD2):c.3335+19G>C
NM_001018115.3(FANCD2):c.3335+3G>A
NM_001018115.3(FANCD2):c.3335+8A>G
NM_001018115.3(FANCD2):c.3336-10C>G
NM_001018115.3(FANCD2):c.3336-4dup
NM_001018115.3(FANCD2):c.3336-8C>T
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001018115.3(FANCD2):c.3342C>T (p.Ser1114=)
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=) rs566518051
NM_001018115.3(FANCD2):c.3354G>A (p.Leu1118=)
NM_001018115.3(FANCD2):c.3355C>A (p.Gln1119Lys) rs1031970731
NM_001018115.3(FANCD2):c.3369A>G (p.Gln1123=)
NM_001018115.3(FANCD2):c.3371G>C (p.Ser1124Thr)
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs) rs2125072480
NM_001018115.3(FANCD2):c.3381T>C (p.Ser1127=)
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter) rs2125072527
NM_001018115.3(FANCD2):c.3393T>C (p.Ala1131=)
NM_001018115.3(FANCD2):c.3405C>T (p.Ile1135=)
NM_001018115.3(FANCD2):c.3426G>A (p.Leu1142=)
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.3460A>G (p.Lys1154Glu)
NM_001018115.3(FANCD2):c.3462A>C (p.Lys1154Asn) rs1559403678
NM_001018115.3(FANCD2):c.3466+1G>A
NM_001018115.3(FANCD2):c.3466+6G>A
NM_001018115.3(FANCD2):c.3466+9C>T rs33998487
NM_001018115.3(FANCD2):c.3467-11T>G
NM_001018115.3(FANCD2):c.3467-12C>G
NM_001018115.3(FANCD2):c.3467-12_3467-10del
NM_001018115.3(FANCD2):c.3467-2A>G
NM_001018115.3(FANCD2):c.3467-3C>A rs1694370265
NM_001018115.3(FANCD2):c.3467-8T>G rs2125076487
NM_001018115.3(FANCD2):c.3468T>G (p.Ala1156=) rs2125076511
NM_001018115.3(FANCD2):c.3474T>C (p.Leu1158=)
NM_001018115.3(FANCD2):c.3489C>T (p.Leu1163=)
NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln) rs549507714
NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter) rs2125076610
NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)
NM_001018115.3(FANCD2):c.3501del (p.Trp1167fs)
NM_001018115.3(FANCD2):c.3502_3503insT (p.Pro1168fs)
NM_001018115.3(FANCD2):c.3507T>G (p.Ser1169Arg) rs1373304921
NM_001018115.3(FANCD2):c.3528C>T (p.Asn1176=)
NM_001018115.3(FANCD2):c.3531C>A (p.Ile1177=)
NM_001018115.3(FANCD2):c.3531C>T (p.Ile1177=)
NM_001018115.3(FANCD2):c.3533C>G (p.Ser1178Cys) rs1472283913
NM_001018115.3(FANCD2):c.3535A>G (p.Asn1179Asp) rs949980921
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter) rs1694376599
NM_001018115.3(FANCD2):c.3546C>T (p.Leu1182=) rs2125076733
NM_001018115.3(FANCD2):c.3551C>A (p.Ala1184Asp)
NM_001018115.3(FANCD2):c.3552T>A (p.Ala1184=)
NM_001018115.3(FANCD2):c.3552T>C (p.Ala1184=)
NM_001018115.3(FANCD2):c.3560+11T>C
NM_001018115.3(FANCD2):c.3560+13G>A
NM_001018115.3(FANCD2):c.3560+1G>A
NM_001018115.3(FANCD2):c.3561-13A>G
NM_001018115.3(FANCD2):c.3561-1del rs2125077559
NM_001018115.3(FANCD2):c.3561-9T>C
NM_001018115.3(FANCD2):c.3564C>T (p.Ile1188=)
NM_001018115.3(FANCD2):c.3565T>A (p.Tyr1189Asn) rs1273519317
NM_001018115.3(FANCD2):c.3584G>C (p.Ser1195Thr)
NM_001018115.3(FANCD2):c.3586A>G (p.Ile1196Val) rs1339689117
NM_001018115.3(FANCD2):c.3591G>A (p.Leu1197=)
NM_001018115.3(FANCD2):c.3594G>A (p.Lys1198=) rs1463556947
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs) rs1694404041
NM_001018115.3(FANCD2):c.3615T>G (p.Gly1205=)
NM_001018115.3(FANCD2):c.3618T>C (p.Val1206=)
NM_001018115.3(FANCD2):c.3623T>A (p.Val1208Asp)
NM_001018115.3(FANCD2):c.3643C>T (p.Pro1215Ser) rs941244378
NM_001018115.3(FANCD2):c.3645T>G (p.Pro1215=)
NM_001018115.3(FANCD2):c.3660C>G (p.Ser1220=) rs1559404961
NM_001018115.3(FANCD2):c.3683+12C>A
NM_001018115.3(FANCD2):c.3683+17C>T
NM_001018115.3(FANCD2):c.3683+18T>C
NM_001018115.3(FANCD2):c.3683+5G>C
NM_001018115.3(FANCD2):c.3684-10C>T
NM_001018115.3(FANCD2):c.3684-12C>G
NM_001018115.3(FANCD2):c.3684-14T>C
NM_001018115.3(FANCD2):c.3684-18G>C
NM_001018115.3(FANCD2):c.3684-5T>C rs1262479173
NM_001018115.3(FANCD2):c.3684-9G>T
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
NM_001018115.3(FANCD2):c.3694GTT[1] (p.Val1233del)
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser) rs771078251
NM_001018115.3(FANCD2):c.3707G>T (p.Arg1236Leu)
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001018115.3(FANCD2):c.3716T>A (p.Met1239Lys) rs1694512844
NM_001018115.3(FANCD2):c.3723A>G (p.Glu1241=)
NM_001018115.3(FANCD2):c.3738G>A (p.Val1246=)
NM_001018115.3(FANCD2):c.3749_3777+789del rs2125081509
NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)
NM_001018115.3(FANCD2):c.3768C>T (p.Asp1256=)
NM_001018115.3(FANCD2):c.3771G>A (p.Ser1257=)
NM_001018115.3(FANCD2):c.3771G>T (p.Ser1257=)
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu) rs1486214768
NM_001018115.3(FANCD2):c.3777+16G>A
NM_001018115.3(FANCD2):c.3777+17T>A
NM_001018115.3(FANCD2):c.3777+5G>A rs368999017
NM_001018115.3(FANCD2):c.3777+83_3777+86del rs773716319
NM_001018115.3(FANCD2):c.3777+8A>G
NM_001018115.3(FANCD2):c.3778-16T>A rs767539823
NM_001018115.3(FANCD2):c.3778-17del
NM_001018115.3(FANCD2):c.3778-19A>C
NM_001018115.3(FANCD2):c.3778-19A>G
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly) rs886057692
NM_001018115.3(FANCD2):c.3792A>G (p.Lys1264=)
NM_001018115.3(FANCD2):c.3793C>T (p.Leu1265Phe) rs749410557
NM_001018115.3(FANCD2):c.3793CTC[1] (p.Leu1266del) rs2125086057
NM_001018115.3(FANCD2):c.3798C>G (p.Leu1266=)
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
NM_001018115.3(FANCD2):c.3802T>G (p.Trp1268Gly) rs1196009515
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001018115.3(FANCD2):c.3807C>T (p.Asn1269=)
NM_001018115.3(FANCD2):c.3831C>T (p.Ile1277=)
NM_001018115.3(FANCD2):c.3848A>G (p.Lys1283Arg) rs762148969
NM_001018115.3(FANCD2):c.3849+12G>A
NM_001018115.3(FANCD2):c.3849+12_3849+13delinsAG
NM_001018115.3(FANCD2):c.3849+16G>A rs767163581
NM_001018115.3(FANCD2):c.3849+1G>A
NM_001018115.3(FANCD2):c.3849+1G>T
NM_001018115.3(FANCD2):c.3850-10A>C
NM_001018115.3(FANCD2):c.3850-10A>G
NM_001018115.3(FANCD2):c.3850-15C>T
NM_001018115.3(FANCD2):c.3850-6C>A
NM_001018115.3(FANCD2):c.3860G>C (p.Ser1287Thr)
NM_001018115.3(FANCD2):c.3869T>C (p.Val1290Ala) rs2125088623
NM_001018115.3(FANCD2):c.3879A>T (p.Val1293=) rs2125088663
NM_001018115.3(FANCD2):c.3883T>C (p.Leu1295=)
NM_001018115.3(FANCD2):c.3888+16G>C
NM_001018115.3(FANCD2):c.3888+18C>T
NM_001018115.3(FANCD2):c.3888+5G>A
NM_001018115.3(FANCD2):c.3888+7G>C rs1482801348
NM_001018115.3(FANCD2):c.3888+7G>T
NM_001018115.3(FANCD2):c.3889-16T>C
NM_001018115.3(FANCD2):c.3889-1G>A
NM_001018115.3(FANCD2):c.3889-20A>T rs2125090552
NM_001018115.3(FANCD2):c.3889-20_3889-19del
NM_001018115.3(FANCD2):c.3889-2A>G
NM_001018115.3(FANCD2):c.3889-5_3889-3del rs2125090590
NM_001018115.3(FANCD2):c.3889-8T>C
NM_001018115.3(FANCD2):c.3891T>C (p.Tyr1297=)
NM_001018115.3(FANCD2):c.3894G>A (p.Gly1298=)
NM_001018115.3(FANCD2):c.3900C>A (p.Leu1300=)
NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter) rs148471911
NM_001018115.3(FANCD2):c.3924A>G (p.Gln1308=)
NM_001018115.3(FANCD2):c.3925T>G (p.Cys1309Gly)
NM_001018115.3(FANCD2):c.3934C>T (p.Leu1312Phe) rs2125090749
NM_001018115.3(FANCD2):c.3946A>C (p.Ser1316Arg)
NM_001018115.3(FANCD2):c.3958C>T (p.His1320Tyr) rs2125090799
NM_001018115.3(FANCD2):c.3962G>A (p.Arg1321Gln) rs147205530
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_001018115.3(FANCD2):c.3963+10A>G
NM_001018115.3(FANCD2):c.3963+14G>A
NM_001018115.3(FANCD2):c.3963+15C>T
NM_001018115.3(FANCD2):c.3963+16A>T
NM_001018115.3(FANCD2):c.3963+19G>A rs2125090870
NM_001018115.3(FANCD2):c.3963_3963+1inv
NM_001018115.3(FANCD2):c.3970G>A (p.Val1324Ile)
NM_001018115.3(FANCD2):c.3972T>C (p.Val1324=)
NM_001018115.3(FANCD2):c.3981A>G (p.Leu1327=)
NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)
NM_001018115.3(FANCD2):c.3999G>A (p.Leu1333=) rs1694883609
NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)
NM_001018115.3(FANCD2):c.4016A>C (p.His1339Pro) rs1559408827
NM_001018115.3(FANCD2):c.4021C>T (p.Leu1341=)
NM_001018115.3(FANCD2):c.4022T>G (p.Leu1341Arg)
NM_001018115.3(FANCD2):c.4038+10_4038+11dup
NM_001018115.3(FANCD2):c.4038+11G>C
NM_001018115.3(FANCD2):c.4038+12A>G
NM_001018115.3(FANCD2):c.4038+20C>T
NM_001018115.3(FANCD2):c.4038+2T>G
NM_001018115.3(FANCD2):c.4039-12A>G
NM_001018115.3(FANCD2):c.4039-2A>G
NM_001018115.3(FANCD2):c.4059C>T (p.Leu1353=)
NM_001018115.3(FANCD2):c.4062C>G (p.Thr1354=)
NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
NM_001018115.3(FANCD2):c.4067A>G (p.His1356Arg) rs1348547984
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
NM_001018115.3(FANCD2):c.4105T>G (p.Cys1369Gly) rs995972011
NM_001018115.3(FANCD2):c.4106G>A (p.Cys1369Tyr)
NM_001018115.3(FANCD2):c.4112T>A (p.Val1371Asp) rs2125095439
NM_001018115.3(FANCD2):c.4120A>G (p.Met1374Val)
NM_001018115.3(FANCD2):c.4126A>G (p.Thr1376Ala)
NM_001018115.3(FANCD2):c.4128T>C (p.Thr1376=)
NM_001018115.3(FANCD2):c.4128_4131dup (p.Asn1378fs)
NM_001018115.3(FANCD2):c.4131C>T (p.Leu1377=) rs2125095502
NM_001018115.3(FANCD2):c.4132A>C (p.Asn1378His)
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=) rs752376206
NM_001018115.3(FANCD2):c.4138T>C (p.Cys1380Arg)
NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter) rs954149471
NM_001018115.3(FANCD2):c.4161C>A (p.Gly1387=)
NM_001018115.3(FANCD2):c.4167A>G (p.Leu1389=) rs2125095618
NM_001018115.3(FANCD2):c.4171A>C (p.Asn1391His) rs1694972063
NM_001018115.3(FANCD2):c.4174C>T (p.Arg1392Trp)
NM_001018115.3(FANCD2):c.4176G>A (p.Arg1392=)
NM_001018115.3(FANCD2):c.4185+10G>A
NM_001018115.3(FANCD2):c.4185+12A>T
NM_001018115.3(FANCD2):c.4185+5G>T rs2125095695
NM_001018115.3(FANCD2):c.4186-10T>G
NM_001018115.3(FANCD2):c.4186-11T>C
NM_001018115.3(FANCD2):c.4186-12A>G
NM_001018115.3(FANCD2):c.4186-14C>T rs1379128834
NM_001018115.3(FANCD2):c.4186-16G>A
NM_001018115.3(FANCD2):c.4186-2A>G
NM_001018115.3(FANCD2):c.4194G>A (p.Glu1398=)
NM_001018115.3(FANCD2):c.4202C>T (p.Ser1401Phe)
NM_001018115.3(FANCD2):c.4210T>A (p.Ser1404Thr)
NM_001018115.3(FANCD2):c.4232A>C (p.Glu1411Ala) rs753252480
NM_001018115.3(FANCD2):c.4233G>A (p.Glu1411=)
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001018115.3(FANCD2):c.4239G>A (p.Glu1413=)
NM_001018115.3(FANCD2):c.4245C>T (p.Asp1415=)
NM_001018115.3(FANCD2):c.4254C>G (p.Ser1418=)
NM_001018115.3(FANCD2):c.4257G>A (p.Gln1419=)
NM_001018115.3(FANCD2):c.4263dup (p.Lys1422fs)
NM_001018115.3(FANCD2):c.4264A>C (p.Lys1422Gln) rs1695131902
NM_001018115.3(FANCD2):c.4281+111A>G
NM_001018115.3(FANCD2):c.4281+132A>G
NM_001018115.3(FANCD2):c.4281+132A>T
NM_001018115.3(FANCD2):c.4281+16C>T rs1695133266
NM_001018115.3(FANCD2):c.4281+18A>G rs753560188
NM_001018115.3(FANCD2):c.4281+1del
NM_001018115.3(FANCD2):c.4281+517A>C rs1695165243
NM_001018115.3(FANCD2):c.4281+543C>T rs540249462
NM_001018115.3(FANCD2):c.4281+58C>T
NM_001018115.3(FANCD2):c.4281+65G>A
NM_001018115.3(FANCD2):c.4281+72C>T
NM_001018115.3(FANCD2):c.4281+823A>G rs886057697
NM_001018115.3(FANCD2):c.4281+90T>C
NM_001018115.3(FANCD2):c.4281+96T>C
NM_001018115.3(FANCD2):c.4281+9A>G
NM_001018115.3(FANCD2):c.4338T>G (p.Ser1446Arg) rs2125105648
NM_033084.6(FANCD2):c.3107_3108del rs2125059924

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