ClinVar Miner

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

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Total variants: 118
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HGVS dbSNP
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421
NM_001018115.3(FANCD2):c.1278+15C>T
NM_001018115.3(FANCD2):c.1278+5G>T
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val)
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=)
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg)
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile)
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr)
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg)
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn)
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp)
NM_001018115.3(FANCD2):c.4281+328G>T
NM_001018115.3(FANCD2):c.4281+398G>C
NM_001018115.3(FANCD2):c.4281+517A>C
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln)
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro)
NM_001018115.3(FANCD2):c.696-11A>G
NM_033084.5(FANCD2):c.-33-13G>A rs113338938
NM_033084.5(FANCD2):c.-6G>C rs3732974
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.1134+8T>G rs373232961
NM_033084.5(FANCD2):c.1137G>T (p.Val379=) rs72492997
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.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.1336C>G (p.Leu446Val) rs34557223
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.1509C>T (p.Asn503=) rs6785756
NM_033084.5(FANCD2):c.1545+9T>C rs769459614
NM_033084.5(FANCD2):c.1546-8T>C rs530202330
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.1656+14T>A rs200473919
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.5(FANCD2):c.182C>T (p.Thr61Met) rs35110529
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.1948-7C>T rs757782326
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.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.2418T>G (p.Pro806=) rs61751577
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.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.2803A>C (p.Ile935Leu) rs61751578
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) rs372574627
NM_033084.5(FANCD2):c.28T>C (p.Ser10Pro) rs150075366
NM_033084.5(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638
NM_033084.5(FANCD2):c.3105+15C>T rs460965
NM_033084.5(FANCD2):c.33G>A (p.Glu11=) rs147426418
NM_033084.5(FANCD2):c.382G>T (p.Gly128Cys) rs772201181
NM_033084.5(FANCD2):c.491+10G>A rs17032279
NM_033084.5(FANCD2):c.516A>G (p.Ile172Met) rs35173688
NM_033084.5(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033084.5(FANCD2):c.64+12G>C rs9833228
NM_033084.5(FANCD2):c.672C>T (p.His224=) rs371928644
NM_033084.5(FANCD2):c.78A>C (p.Gln26His) rs45510294
NM_033084.5(FANCD2):c.864C>T (p.Ser288=) rs780547790
NM_033084.5(FANCD2):c.983G>A (p.Arg328Gln) rs35625434
NM_173472.2(FANCD2OS):c.*126T>A rs759516610
NM_173472.2(FANCD2OS):c.43+4560T>C rs886057697
NM_173472.2(FANCD2OS):c.43+4698G>A rs11716842
NM_173472.2(FANCD2OS):c.43+4710C>T rs9862958
NM_173472.2(FANCD2OS):c.43+4786G>A rs548255173
NM_173472.2(FANCD2OS):c.43+4817A>C rs3826
NM_173472.2(FANCD2OS):c.43+4821G>T rs550613588
NM_173472.2(FANCD2OS):c.43+4840G>A rs540249462
NM_173472.2(FANCD2OS):c.43+4849C>T rs886057696
NM_173472.2(FANCD2OS):c.43+4858T>C rs886057695
NM_173472.2(FANCD2OS):c.43+5113T>C rs17032386
NM_173472.2(FANCD2OS):c.43+5126G>A rs886057694
NM_173472.2(FANCD2OS):c.43+5186T>C rs7647987
NM_173472.2(FANCD2OS):c.43+5204G>A rs370459744
NM_173472.2(FANCD2OS):c.43+5211C>T rs7626117
NM_173472.2(FANCD2OS):c.43+5483A>G rs763801603
NM_173472.2(FANCD2OS):c.43+5491G>A rs755767180
NM_173472.2(FANCD2OS):c.43+7813A>C rs2272125
NM_173472.2(FANCD2OS):c.43+8916C>T rs190990145
NM_173472.2(FANCD2OS):c.44-10660T>C rs886057692
NM_173472.2(FANCD2OS):c.44-10734T>C rs9811771
NM_173472.2(FANCD2OS):c.44-5618G>A rs566518051
NM_173472.2(FANCD2OS):c.44-5713G>A rs147675860
NM_173472.2(FANCD2OS):c.44-7009G>C rs745765337
NM_173472.2(FANCD2OS):c.44-7381A>T rs1168183069
NM_173472.2(FANCD2OS):c.44-7382T>C rs367552677
NM_173472.2(FANCD2OS):c.44-8784C>T rs121917786
NM_173472.2(FANCD2OS):c.44-8811G>A rs764775864

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