ClinVar Miner

List of variants in gene FANCD2, LOC107303338 studied for Fanconi anemia complementation group D2

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Total variants: 11
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HGVS dbSNP
NM_033084.5(FANCD2):c.1201del (p.Arg401fs) rs1553608812
NM_033084.5(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_033084.5(FANCD2):c.1278+3_1278+5del rs375350046
NM_033084.5(FANCD2):c.1348A>G (p.Ile450Val) rs145129959
NM_033084.5(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.5(FANCD2):c.2094_2096CCT[1] (p.Leu700del) rs869312805
NM_033084.5(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578
NM_033084.5(FANCD2):c.310A>G (p.Ile104Val) rs774299094
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_033084.5(FANCD2):c.958C>T (p.Gln320Ter) rs121917788

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