ClinVar Miner

List of variants in gene FANCD2, FANCD2OS studied for Fanconi anemia, complementation group D2

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Total variants: 42
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HGVS dbSNP
NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs) rs1575824608
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121
NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs)
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser)
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)
NM_001018115.3(FANCD2):c.3802T>G (p.Trp1268Gly)
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)
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_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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