ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as uncertain significance for DNA repair disease

Included ClinVar conditions (97):
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Gene type:
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Total variants: 64
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HGVS dbSNP
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.1134+8T>G rs373232961
NM_033084.5(FANCD2):c.1207C>G (p.Leu403Val)
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.1278+2dup rs1553608861
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.1400C>T (p.Thr467Met) rs760246372
NM_033084.5(FANCD2):c.146T>G (p.Val49Gly)
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.1656+14T>A rs200473919
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.1835C>T (p.Ser612Phe) rs760516842
NM_033084.5(FANCD2):c.1864G>A (p.Glu622Lys)
NM_033084.5(FANCD2):c.1874C>T (p.Pro625Leu) rs886057690
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.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.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.2372A>G (p.Asn791Ser) rs758718558
NM_033084.5(FANCD2):c.2376G>C (p.Trp792Cys)
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.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.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.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.378-3C>T rs74923817
NM_033084.5(FANCD2):c.382G>T (p.Gly128Cys) rs772201181
NM_033084.5(FANCD2):c.491+10G>A rs17032279
NM_033084.5(FANCD2):c.704T>C (p.Leu235Pro)
NM_033084.5(FANCD2):c.817A>G (p.Ile273Val)

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