ClinVar Miner

List of variants in gene combination FANCD2, FANCD2OS reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.4281+398G>C rs34092072 0.00225
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile) rs138398760 0.00057
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.4281+37G>A rs376442380 0.00008
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.3106-13T>G rs759732362 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.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.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.3692T>C (p.Phe1231Ser) rs762915519 0.00002
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864 0.00002
NM_001018115.3(FANCD2):c.3808A>G (p.Met1270Val) rs587778333 0.00002
NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser) rs781605384 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.4175G>A (p.Arg1392Gln) rs1334082637 0.00002
NM_001018115.3(FANCD2):c.3224+8T>A rs1412513898 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.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.3527A>G (p.Asn1176Ser) rs764205355 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.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.4048G>A (p.Asp1350Asn) rs772169028 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.4163A>G (p.Asn1388Ser) rs745472884 0.00001
NM_001018115.3(FANCD2):c.4177G>A (p.Asp1393Asn) rs1273669064 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+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.(?_10127486)_(10140634_?)dup
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NC_000003.11:g.(?_10138000)_(10140634_?)del
NC_000003.12:g.(?_10090282)_(10098950_?)dup
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.3169A>G (p.Ile1057Val)
NM_001018115.3(FANCD2):c.3181T>C (p.Cys1061Arg) rs1693827482
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.3242C>T (p.Pro1081Leu)
NM_001018115.3(FANCD2):c.3274C>T (p.His1092Tyr)
NM_001018115.3(FANCD2):c.3292C>A (p.Leu1098Met)
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+3G>A
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=) rs566518051
NM_001018115.3(FANCD2):c.3355C>A (p.Gln1119Lys) rs1031970731
NM_001018115.3(FANCD2):c.3371G>C (p.Ser1124Thr)
NM_001018115.3(FANCD2):c.3426G>A (p.Leu1142=)
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+6G>A
NM_001018115.3(FANCD2):c.3467-3C>A rs1694370265
NM_001018115.3(FANCD2):c.3467-8T>G rs2125076487
NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln) rs549507714
NM_001018115.3(FANCD2):c.3507T>G (p.Ser1169Arg) rs1373304921
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.3551C>A (p.Ala1184Asp)
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.3623T>A (p.Val1208Asp)
NM_001018115.3(FANCD2):c.3643C>T (p.Pro1215Ser) rs941244378
NM_001018115.3(FANCD2):c.3683+5G>C
NM_001018115.3(FANCD2):c.3694GTT[1] (p.Val1233del)
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.3776A>T (p.Gln1259Leu) rs1486214768
NM_001018115.3(FANCD2):c.3777+5G>A rs368999017
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly) rs886057692
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.3802T>G (p.Trp1268Gly) rs1196009515
NM_001018115.3(FANCD2):c.3848A>G (p.Lys1283Arg) rs762148969
NM_001018115.3(FANCD2):c.3849+12_3849+13delinsAG
NM_001018115.3(FANCD2):c.3860G>C (p.Ser1287Thr)
NM_001018115.3(FANCD2):c.3869T>C (p.Val1290Ala) rs2125088623
NM_001018115.3(FANCD2):c.3888+5G>A
NM_001018115.3(FANCD2):c.3889-5_3889-3del rs2125090590
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.3970G>A (p.Val1324Ile)
NM_001018115.3(FANCD2):c.4016A>C (p.His1339Pro) rs1559408827
NM_001018115.3(FANCD2):c.4022T>G (p.Leu1341Arg)
NM_001018115.3(FANCD2):c.4067A>G (p.His1356Arg) rs1348547984
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.4128_4131dup (p.Asn1378fs)
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.4171A>C (p.Asn1391His) rs1694972063
NM_001018115.3(FANCD2):c.4174C>T (p.Arg1392Trp)
NM_001018115.3(FANCD2):c.4185+5G>T rs2125095695
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.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001018115.3(FANCD2):c.4263dup (p.Lys1422fs)
NM_001018115.3(FANCD2):c.4264A>C (p.Lys1422Gln) rs1695131902
NM_001018115.3(FANCD2):c.4281+16C>T rs1695133266
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+65G>A
NM_001018115.3(FANCD2):c.4281+823A>G rs886057697
NM_001018115.3(FANCD2):c.4338T>G (p.Ser1446Arg) rs2125105648

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