ClinVar Miner

List of variants in gene combination FANCD2, FANCD2OS reported as likely benign for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.4281+270A>G rs17032386 0.03356
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.3877G>A (p.Val1293Ile) rs138398760 0.00057
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
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.3642T>A (p.Ser1214=) rs538250317 0.00007
NM_001018115.3(FANCD2):c.3964-19A>G rs200544843 0.00007
NM_001018115.3(FANCD2):c.4186-13C>T rs755767180 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.3483A>G (p.Gln1161=) rs143403347 0.00004
NM_001018115.3(FANCD2):c.3735G>A (p.Thr1245=) rs750130327 0.00004
NM_001018115.3(FANCD2):c.4186-5T>C rs763801603 0.00004
NM_001018115.3(FANCD2):c.3466+9C>G rs33998487 0.00003
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.3778-15A>G rs755821273 0.00002
NM_001018115.3(FANCD2):c.3871C>T (p.Leu1291=) rs771698231 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.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.3285T>C (p.Ser1095=) rs759252565 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.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.3645T>A (p.Pro1215=) rs1168183069 0.00001
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=) rs760054945 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.4056A>G (p.Arg1352=) rs1336906399 0.00001
NM_001018115.3(FANCD2):c.4140T>C (p.Cys1380=) rs954149471 0.00001
NM_001018115.3(FANCD2):c.4185+20A>G rs770768796 0.00001
NM_001018115.3(FANCD2):c.4281+42C>T rs1415649585 0.00001
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.3195G>A (p.Leu1065=)
NM_001018115.3(FANCD2):c.3224+10T>C
NM_001018115.3(FANCD2):c.3224+11G>A
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.3240A>G (p.Gln1080=) rs1694161718
NM_001018115.3(FANCD2):c.3252G>A (p.Gln1084=)
NM_001018115.3(FANCD2):c.3279C>A (p.Val1093=)
NM_001018115.3(FANCD2):c.3291A>C (p.Arg1097=)
NM_001018115.3(FANCD2):c.3292C>T (p.Leu1098=)
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+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.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.3369A>G (p.Gln1123=)
NM_001018115.3(FANCD2):c.3381T>C (p.Ser1127=)
NM_001018115.3(FANCD2):c.3393T>C (p.Ala1131=)
NM_001018115.3(FANCD2):c.3405C>T (p.Ile1135=)
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.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.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.3546C>T (p.Leu1182=) rs2125076733
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.3561-13A>G
NM_001018115.3(FANCD2):c.3561-9T>C
NM_001018115.3(FANCD2):c.3564C>T (p.Ile1188=)
NM_001018115.3(FANCD2):c.3591G>A (p.Leu1197=)
NM_001018115.3(FANCD2):c.3594G>A (p.Lys1198=) rs1463556947
NM_001018115.3(FANCD2):c.3615T>G (p.Gly1205=)
NM_001018115.3(FANCD2):c.3618T>C (p.Val1206=)
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.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.3723A>G (p.Glu1241=)
NM_001018115.3(FANCD2):c.3738G>A (p.Val1246=)
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.3777+16G>A
NM_001018115.3(FANCD2):c.3777+17T>A
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.3792A>G (p.Lys1264=)
NM_001018115.3(FANCD2):c.3798C>G (p.Leu1266=)
NM_001018115.3(FANCD2):c.3807C>T (p.Asn1269=)
NM_001018115.3(FANCD2):c.3831C>T (p.Ile1277=)
NM_001018115.3(FANCD2):c.3849+12G>A
NM_001018115.3(FANCD2):c.3849+16G>A rs767163581
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.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+7G>C rs1482801348
NM_001018115.3(FANCD2):c.3888+7G>T
NM_001018115.3(FANCD2):c.3889-16T>C
NM_001018115.3(FANCD2):c.3889-20A>T rs2125090552
NM_001018115.3(FANCD2):c.3889-20_3889-19del
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.3924A>G (p.Gln1308=)
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.3972T>C (p.Val1324=)
NM_001018115.3(FANCD2):c.3981A>G (p.Leu1327=)
NM_001018115.3(FANCD2):c.3999G>A (p.Leu1333=) rs1694883609
NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)
NM_001018115.3(FANCD2):c.4021C>T (p.Leu1341=)
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.4039-12A>G
NM_001018115.3(FANCD2):c.4059C>T (p.Leu1353=)
NM_001018115.3(FANCD2):c.4062C>G (p.Thr1354=)
NM_001018115.3(FANCD2):c.4128T>C (p.Thr1376=)
NM_001018115.3(FANCD2):c.4131C>T (p.Leu1377=) rs2125095502
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=) rs752376206
NM_001018115.3(FANCD2):c.4161C>A (p.Gly1387=)
NM_001018115.3(FANCD2):c.4167A>G (p.Leu1389=) rs2125095618
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.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.4194G>A (p.Glu1398=)
NM_001018115.3(FANCD2):c.4233G>A (p.Glu1411=)
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.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+18A>G rs753560188
NM_001018115.3(FANCD2):c.4281+58C>T
NM_001018115.3(FANCD2):c.4281+72C>T
NM_001018115.3(FANCD2):c.4281+90T>C
NM_001018115.3(FANCD2):c.4281+96T>C
NM_001018115.3(FANCD2):c.4281+9A>G

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