ClinVar Miner

List of variants in gene FANCD2, LOC107303338 studied for DNA repair disease

Included ClinVar conditions (97):
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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP
NC_000003.11:g.(?_10070332)_(10085558_?)del
NC_000003.11:g.(?_10070332)_(10088417_?)del
NM_033084.5(FANCD2):c.1016G>A (p.Gly339Asp)
NM_033084.5(FANCD2):c.1085A>G (p.Glu362Gly) rs951763949
NM_033084.5(FANCD2):c.1116C>T (p.Ala372=) rs370078641
NM_033084.5(FANCD2):c.1122A>G (p.Val374=) rs34046352
NM_033084.5(FANCD2):c.1130A>G (p.His377Arg) rs141141752
NM_033084.5(FANCD2):c.1134+10A>G rs758751922
NM_033084.5(FANCD2):c.1134+8T>G rs373232961
NM_033084.5(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_033084.5(FANCD2):c.1156T>G (p.Phe386Val) rs149125003
NM_033084.5(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1201del (p.Arg401fs) rs1553608812
NM_033084.5(FANCD2):c.1207C>G (p.Leu403Val)
NM_033084.5(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_033084.5(FANCD2):c.1232G>T (p.Cys411Phe) rs886057663
NM_033084.5(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218
NM_033084.5(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_033084.5(FANCD2):c.1278+2dup rs1553608861
NM_033084.5(FANCD2):c.1278+3_1278+5del rs375350046
NM_033084.5(FANCD2):c.1311G>A (p.Ser437=) rs564577177
NM_033084.5(FANCD2):c.1336C>G (p.Leu446Val) rs34557223
NM_033084.5(FANCD2):c.1348A>G (p.Ile450Val) rs145129959
NM_033084.5(FANCD2):c.1366C>A (p.Leu456Ile)
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.1400C>T (p.Thr467Met) rs760246372
NM_033084.5(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_033084.5(FANCD2):c.1413+14T>C rs12330599
NM_033084.5(FANCD2):c.1413+3A>G rs62245508
NM_033084.5(FANCD2):c.1414-9C>T rs35557429
NM_033084.5(FANCD2):c.1440T>C (p.His480=) rs375412395
NM_033084.5(FANCD2):c.146T>G (p.Val49Gly)
NM_033084.5(FANCD2):c.1470T>C (p.Asp490=) rs567183176
NM_033084.5(FANCD2):c.1509C>T (p.Asn503=) rs6785756
NM_033084.5(FANCD2):c.1519A>G (p.Met507Val) rs376708399
NM_033084.5(FANCD2):c.1545+9T>C rs769459614
NM_033084.5(FANCD2):c.1546-8T>C rs530202330
NM_033084.5(FANCD2):c.1550T>C (p.Ile517Thr) rs1221998060
NM_033084.5(FANCD2):c.1601A>G (p.Tyr534Cys)
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.1656+14T>A rs200473919
NM_033084.5(FANCD2):c.1675A>G (p.Ile559Val) rs201408009
NM_033084.5(FANCD2):c.172A>G (p.Ile58Val) rs766098612
NM_033084.5(FANCD2):c.1759G>A (p.Ala587Thr) rs1553610798
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.5(FANCD2):c.1796G>A (p.Arg599Lys)
NM_033084.5(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666
NM_033084.5(FANCD2):c.182C>T (p.Thr61Met) rs35110529
NM_033084.5(FANCD2):c.1835C>T (p.Ser612Phe) rs760516842
NM_033084.5(FANCD2):c.183G>A (p.Thr61=) rs771445756
NM_033084.5(FANCD2):c.1864G>A (p.Glu622Lys)
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.1874C>T (p.Pro625Leu) rs886057690
NM_033084.5(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_033084.5(FANCD2):c.1920A>C (p.Gln640His)
NM_033084.5(FANCD2):c.1948-7C>T rs757782326
NM_033084.5(FANCD2):c.1954G>A (p.Val652Ile) rs1381447946
NM_033084.5(FANCD2):c.195G>C (p.Gln65His) rs36084488
NM_033084.5(FANCD2):c.2022-5C>T rs4019784
NM_033084.5(FANCD2):c.205+9T>G rs34113138
NM_033084.5(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_033084.5(FANCD2):c.2068G>A (p.Asp690Asn)
NM_033084.5(FANCD2):c.2082G>T (p.Gly694=)
NM_033084.5(FANCD2):c.2094_2096CCT[1] (p.Leu700del) rs869312805
NM_033084.5(FANCD2):c.2103G>T (p.Pro701=) rs139033444
NM_033084.5(FANCD2):c.2124T>C (p.Phe708=) rs9809716
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_033084.5(FANCD2):c.2148C>G (p.Thr716=) rs55856815
NM_033084.5(FANCD2):c.2181G>A (p.Pro727=) rs560600678
NM_033084.5(FANCD2):c.2218T>C (p.Cys740Arg)
NM_033084.5(FANCD2):c.2246T>G (p.Leu749Trp)
NM_033084.5(FANCD2):c.2251G>A (p.Glu751Lys) rs1559389326
NM_033084.5(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431
NM_033084.5(FANCD2):c.2372A>G (p.Asn791Ser) rs758718558
NM_033084.5(FANCD2):c.2376G>C (p.Trp792Cys)
NM_033084.5(FANCD2):c.2418T>G (p.Pro806=) rs61751577
NM_033084.5(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785
NM_033084.5(FANCD2):c.2469A>G (p.Gln823=) rs574054963
NM_033084.5(FANCD2):c.2480A>C (p.Glu827Ala) rs145099733
NM_033084.5(FANCD2):c.2484G>A (p.Lys828=) rs55980657
NM_033084.5(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_033084.5(FANCD2):c.2495-4T>G rs1553612428
NM_033084.5(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113
NM_033084.5(FANCD2):c.2581A>G (p.Lys861Glu) rs886057691
NM_033084.5(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_033084.5(FANCD2):c.2702G>T (p.Gly901Val) rs35495399
NM_033084.5(FANCD2):c.2712C>T (p.Asn904=) rs35594075
NM_033084.5(FANCD2):c.2723C>T (p.Thr908Ile) rs188375397
NM_033084.5(FANCD2):c.2745_2747del (p.Leu918del) rs1232274352
NM_033084.5(FANCD2):c.279A>G (p.Ile93Met) rs1559370542
NM_033084.5(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578
NM_033084.5(FANCD2):c.2810A>G (p.His937Arg)
NM_033084.5(FANCD2):c.2826G>A (p.Thr942=) rs200118565
NM_033084.5(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_033084.5(FANCD2):c.2872G>A (p.Val958Met)
NM_033084.5(FANCD2):c.2877A>G (p.Gln959=) rs145953386
NM_033084.5(FANCD2):c.2937G>A (p.Met979Ile) rs779245007
NM_033084.5(FANCD2):c.2942C>T (p.Thr981Ile) rs1468736218
NM_033084.5(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638
NM_033084.5(FANCD2):c.2976+6T>C
NM_033084.5(FANCD2):c.310A>G (p.Ile104Val) rs774299094
NM_033084.5(FANCD2):c.311T>C (p.Ile104Thr) rs143936557
NM_033084.5(FANCD2):c.378-3C>T rs74923817
NM_033084.5(FANCD2):c.378-6_378-5del rs55973240
NM_033084.5(FANCD2):c.382G>T (p.Gly128Cys) rs772201181
NM_033084.5(FANCD2):c.438+8T>G rs762114353
NM_033084.5(FANCD2):c.491+10G>A rs17032279
NM_033084.5(FANCD2):c.491+1G>A
NM_033084.5(FANCD2):c.516A>G (p.Ile172Met) rs35173688
NM_033084.5(FANCD2):c.538C>T (p.Leu180=) rs373835427
NM_033084.5(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_033084.5(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033084.5(FANCD2):c.672C>T (p.His224=) rs371928644
NM_033084.5(FANCD2):c.704T>C (p.Leu235Pro)
NM_033084.5(FANCD2):c.757C>T (p.Arg253Ter)
NM_033084.5(FANCD2):c.78A>C (p.Gln26His) rs45510294
NM_033084.5(FANCD2):c.813G>A (p.Ser271=) rs773072936
NM_033084.5(FANCD2):c.817A>G (p.Ile273Val)
NM_033084.5(FANCD2):c.864C>T (p.Ser288=) rs780547790
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_033084.5(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_033084.5(FANCD2):c.983G>A (p.Arg328Gln) rs35625434
NM_033084.5(FANCD2):c.986C>G (p.Ala329Gly) rs116736407

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