ClinVar Miner

List of variants studied for Fanconi anemia complementation group D2

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Total variants: 16
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HGVS dbSNP
FANCD2, 376A-G
FANCD2, EX17 DEL
NM_001018115.1:c.3095delA
NM_001018115.2(FANCD2):c.3707G>A (p.Arg1236His) rs121917786
NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_001018115.2(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_033084.4(FANCD2):c.1201del (p.Arg401Glyfs) rs1553608812
NM_033084.4(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_033084.4(FANCD2):c.1278+3_1278+5delAAG rs375350046
NM_033084.4(FANCD2):c.1348A>G (p.Ile450Val) rs145129959
NM_033084.4(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_033084.4(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.4(FANCD2):c.2097_2099del (p.Leu700del) rs869312805
NM_033084.4(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578
NM_033084.4(FANCD2):c.28T>C (p.Ser10Pro)
NM_033084.4(FANCD2):c.310A>G (p.Ile104Val) rs774299094

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