ClinVar Miner

List of variants in gene combination FANCD2, FANCD2OS reported as uncertain significance for DNA repair disease

Included ClinVar conditions (97):
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Gene type:
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Total variants: 31
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HGVS dbSNP
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NM_001018115.2(FANCD2):c.4281+179C>T rs370459744
NM_001018115.2(FANCD2):c.4281+257C>T rs886057694
NM_001018115.2(FANCD2):c.4281+355A>G rs770674504
NM_001018115.2(FANCD2):c.4281+525A>G rs886057695
NM_001018115.2(FANCD2):c.4281+534G>A rs886057696
NM_001018115.2(FANCD2):c.4281+543C>T rs540249462
NM_001018115.2(FANCD2):c.4281+562C>A rs550613588
NM_001018115.2(FANCD2):c.4281+597C>T rs548255173
NM_001018115.2(FANCD2):c.4281+823A>G rs886057697
NM_033084.5(FANCD2):c.3209A>T (p.His1070Leu) rs759516610
NM_033084.5(FANCD2):c.3351C>T (p.Tyr1117=) rs566518051
NM_033084.5(FANCD2):c.3418G>A (p.Val1140Ile) rs988476435
NM_033084.5(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860
NM_033084.5(FANCD2):c.3494G>A (p.Arg1165Gln) rs549507714
NM_033084.5(FANCD2):c.3524G>A (p.Ser1175Asn) rs151316403
NM_033084.5(FANCD2):c.3535A>G (p.Asn1179Asp) rs949980921
NM_033084.5(FANCD2):c.3646A>G (p.Lys1216Glu) rs367552677
NM_033084.5(FANCD2):c.3692T>C (p.Phe1231Ser) rs762915519
NM_033084.5(FANCD2):c.3710T>C (p.Val1237Ala)
NM_033084.5(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864
NM_033084.5(FANCD2):c.3788A>G (p.Glu1263Gly) rs886057692
NM_033084.5(FANCD2):c.3962G>C (p.Arg1321Pro)
NM_033084.5(FANCD2):c.3973C>A (p.Leu1325Met) rs555539811
NM_033084.5(FANCD2):c.4016A>C (p.His1339Pro) rs1559408827
NM_033084.5(FANCD2):c.4052C>T (p.Thr1351Met) rs775898191
NM_033084.5(FANCD2):c.4140T>C (p.Cys1380=)
NM_033084.5(FANCD2):c.4186-13C>T rs755767180
NM_033084.5(FANCD2):c.4186-5T>C rs763801603
NM_033084.5(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_033084.5(FANCD2):c.4303_4310del (p.Glu1435fs) rs878855172

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