ClinVar Miner

List of variants reported as uncertain significance 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: 76
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.4281+398G>C rs34092072 0.00225
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.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.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.3707G>A (p.Arg1236His) rs121917786 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.1232G>T (p.Cys411Phe) rs886057663
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
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.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.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

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