ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as uncertain significance for Fanconi anemia complementation group D2

Included ClinVar conditions (1):
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Total variants: 105
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HGVS dbSNP gnomAD frequency
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.1130A>G (p.His377Arg) rs141141752 0.00052
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His) rs140452766 0.00048
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
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.1015G>A (p.Gly339Ser) rs144332316 0.00026
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.122T>C (p.Val41Ala) rs139025231 0.00019
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.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113 0.00016
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys) rs200971205 0.00016
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val) rs138587722 0.00015
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.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.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly) rs951763949 0.00006
NM_001018115.3(FANCD2):c.1546-8T>C rs530202330 0.00006
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys) rs143701205 0.00006
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_001018115.3(FANCD2):c.2859+13C>G rs376913349 0.00006
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn) rs534038231 0.00005
NM_001018115.3(FANCD2):c.696-11A>G rs376488313 0.00005
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp) rs778865461 0.00005
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218 0.00004
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met) rs373898927 0.00004
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr) rs774801047 0.00004
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666 0.00004
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr) rs767659342 0.00004
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile) rs764903036 0.00004
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) rs375412395 0.00003
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu) rs750534583 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.2372A>G (p.Asn791Ser) rs758718558 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val) rs770985541 0.00003
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val) rs993692917 0.00002
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val) rs768105189 0.00002
NM_001018115.3(FANCD2):c.1766+3A>G rs758140679 0.00002
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val) rs774299094 0.00002
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys) rs200335298 0.00002
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr) rs751126921 0.00002
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr) rs148255762 0.00001
NM_001018115.3(FANCD2):c.1278+6T>C rs779894573 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile) rs780374375 0.00001
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met) rs760246372 0.00001
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr) rs1312307141 0.00001
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=) rs1447943740 0.00001
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) rs770231582 0.00001
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=) rs552206789 0.00001
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser) rs911843298 0.00001
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp) rs752621186 0.00001
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg) rs2087692676 0.00001
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe) rs1398046806 0.00001
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn) rs769811062 0.00001
NM_001018115.3(FANCD2):c.2715+20C>G rs199714316 0.00001
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile) rs1480379325 0.00001
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys) rs772201181 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 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.976A>G (p.Lys326Glu) rs183778817 0.00001
NM_001018115.3(FANCD2):c.1223G>T (p.Arg408Leu)
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe) rs886057663
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly) rs2087075324
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.1601A>T (p.Tyr534Phe) rs143701205
NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)
NM_001018115.3(FANCD2):c.1657-5T>G rs2125026589
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg) rs1232065920
NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)
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.1954G>A (p.Val652Ile) rs1381447946
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu) rs2087667280
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.2284C>G (p.Leu762Val)
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp) rs1193547837
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu) rs886057691
NM_001018115.3(FANCD2):c.2606-9A>G
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu) rs532250395
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_001018115.3(FANCD2):c.531C>G (p.Val177=) rs747006885
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro) rs769402896

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