ClinVar Miner

List of variants studied for Fanconi anemia complementation group D2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
Download table as spreadsheet
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.1122A>G (p.Val374=) rs34046352 0.19892
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
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.2712C>T (p.Asn904=) rs35594075 0.03203
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=) rs6785756 0.03005
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=) rs55856815 0.00952
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_001018115.3(FANCD2):c.-6G>C rs3732974 0.00227
NM_001018115.3(FANCD2):c.4281+398G>C rs34092072 0.00225
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_001018115.3(FANCD2):c.1656+14T>A rs200473919 0.00080
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_001018115.3(FANCD2):c.205+9T>G rs34113138 0.00056
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121 0.00034
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=) rs147426418 0.00031
NM_001018115.3(FANCD2):c.1134+8T>G rs373232961 0.00029
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_001018115.3(FANCD2):c.4281+597C>T rs548255173 0.00029
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met) rs372574627 0.00024
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=) rs560600678 0.00023
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=) rs370078641 0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421 0.00016
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=) rs61751577 0.00014
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=) rs141824395 0.00013
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=) rs200118565 0.00010
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro) rs150075366 0.00009
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=) rs780547790 0.00009
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala) rs145099733 0.00008
NM_001018115.3(FANCD2):c.672C>T (p.His224=) rs371928644 0.00008
NM_001018115.3(FANCD2):c.4281+328G>T rs1231972897 0.00007
NM_001018115.3(FANCD2):c.-33-13G>A rs113338938 0.00006
NM_001018115.3(FANCD2):c.1546-8T>C rs530202330 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.696-11A>G rs376488313 0.00005
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218 0.00004
NM_001018115.3(FANCD2):c.4186-5T>C rs763801603 0.00004
NM_001018115.3(FANCD2):c.4281+534G>A rs886057696 0.00004
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) rs375412395 0.00003
NM_001018115.3(FANCD2):c.1545+9T>C rs769459614 0.00003
NM_001018115.3(FANCD2):c.1948-7C>T rs757782326 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu) rs759516610 0.00003
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val) rs768105189 0.00002
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864 0.00002
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met) rs760246372 0.00001
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=) rs1447943740 0.00001
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg) rs2087692676 0.00001
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn) rs769811062 0.00001
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=) rs574054963 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.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.382G>T (p.Gly128Cys) rs772201181 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+525A>G rs886057695 0.00001
NM_001018115.3(FANCD2):c.4281+562C>A rs550613588 0.00001
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln) rs41291203 0.00001
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=) rs2086806957 0.00001
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe) rs886057663
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1278+15C>T rs144167368
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1413+14T>C rs12330599
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.1414-9C>T rs35557429
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val) rs2087129096
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr) rs1221998060
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=) rs2087245604
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg) rs1232065920
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile) rs955122662
NM_001018115.3(FANCD2):c.1874C>T (p.Pro625Leu) rs886057690
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr) rs1168778380
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu) rs758628578
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu) rs886057691
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=) rs566518051
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly) rs886057692
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=) rs752376206
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_001018115.3(FANCD2):c.607G>C (p.Ala203Pro) rs769402896

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.