ClinVar Miner

List of variants in gene FANCD2, FANCD2OS studied for Fanconi anemia complementation group D2

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Total variants: 108
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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.3466+10C>T rs200208121 0.00034
NM_001018115.3(FANCD2):c.4281+597C>T rs548255173 0.00029
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.4281+328G>T rs1231972897 0.00007
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.3850-17G>T rs369702202 0.00005
NM_001018115.3(FANCD2):c.3106-13T>G rs759732362 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.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.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.3406A>G (p.Arg1136Gly) rs369405673 0.00002
NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val) rs752815037 0.00002
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu) rs760823688 0.00002
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864 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.3959A>G (p.His1320Arg) rs746501818 0.00002
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) rs552885346 0.00001
NM_001018115.3(FANCD2):c.3224+8T>A rs1412513898 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 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.3558C>G (p.Leu1186=) rs745765337 0.00001
NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe) rs373757862 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.3770C>T (p.Ser1257Leu) rs374940277 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.4163A>G (p.Asn1388Ser) rs745472884 0.00001
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys) rs753272541 0.00001
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp) rs61753270 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.4297G>A (p.Glu1433Lys) rs755911397 0.00001
NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr) rs2125060186
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+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=) rs566518051
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs) rs2125072480
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.3466+1G>A
NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter) rs2125076610
NM_001018115.3(FANCD2):c.3560+1G>A
NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs) rs1694404041
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser) rs771078251
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu) rs1486214768
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly) rs886057692
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.3889-2A>G
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=) rs752376206
NM_001018115.3(FANCD2):c.4186-2A>G
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001018115.3(FANCD2):c.4281+517A>C rs1695165243
NM_001018115.3(FANCD2):c.4281+543C>T rs540249462
NM_001018115.3(FANCD2):c.4281+823A>G rs886057697
NM_033084.6(FANCD2):c.3107_3108del rs2125059924

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