ClinVar Miner

List of variants in gene combination FANCD2, FANCD2OS reported as uncertain significance for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NM_033084.6(FANCD2):c.3706C>T (p.Arg1236Cys)
NM_173472.2(FANCD2OS):c.*126T>A rs759516610
NM_173472.2(FANCD2OS):c.43+4560T>C rs886057697
NM_173472.2(FANCD2OS):c.43+4786G>A rs548255173
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+5028T>C rs770674504
NM_173472.2(FANCD2OS):c.43+5126G>A rs886057694
NM_173472.2(FANCD2OS):c.43+5204G>A rs370459744
NM_173472.2(FANCD2OS):c.43+5354_43+5361del rs878855172
NM_173472.2(FANCD2OS):c.43+5429_43+5434del rs766605179
NM_173472.2(FANCD2OS):c.43+5483A>G rs763801603
NM_173472.2(FANCD2OS):c.43+5491G>A rs755767180
NM_173472.2(FANCD2OS):c.43+7771A>G
NM_173472.2(FANCD2OS):c.43+7859G>A rs775898191
NM_173472.2(FANCD2OS):c.43+8946T>G rs1559408827
NM_173472.2(FANCD2OS):c.43+8989G>T rs555539811
NM_173472.2(FANCD2OS):c.43+9836C>G rs147205530
NM_173472.2(FANCD2OS):c.44-10660T>C rs886057692
NM_173472.2(FANCD2OS):c.44-5618G>A rs566518051
NM_173472.2(FANCD2OS):c.44-5685C>T rs988476435
NM_173472.2(FANCD2OS):c.44-5713G>A rs147675860
NM_173472.2(FANCD2OS):c.44-6945C>T rs549507714
NM_173472.2(FANCD2OS):c.44-6975C>T rs151316403
NM_173472.2(FANCD2OS):c.44-6986T>C rs949980921
NM_173472.2(FANCD2OS):c.44-7382T>C rs367552677
NM_173472.2(FANCD2OS):c.44-8769A>G rs762915519
NM_173472.2(FANCD2OS):c.44-8787A>G rs767806932
NM_173472.2(FANCD2OS):c.44-8811G>A rs764775864

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