ClinVar Miner

List of variants studied for Fanconi anemia, complementation group D2 by Baylor Genetics

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Total variants: 15
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HGVS dbSNP
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly)
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp)
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu)
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu)
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val)
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu)
NM_033084.5(FANCD2):c.1130A>G (p.His377Arg) rs141141752
NM_033084.5(FANCD2):c.1601A>G (p.Tyr534Cys) rs143701205
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.5(FANCD2):c.1920A>C (p.Gln640His) rs140452766
NM_033084.5(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431
NM_033084.5(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113
NM_033084.5(FANCD2):c.2605+1G>A rs142365855
NM_033084.5(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578
NM_033084.5(FANCD2):c.990-1G>A rs112832879

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