ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as uncertain significance by GeneDx

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr) rs143936557 0.00115
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly) rs116736407 0.00113
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001018115.3(FANCD2):c.2976+6T>C rs201875004 0.00013
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro) rs748724233 0.00004
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu) rs183778817 0.00001
NM_001018115.3(FANCD2):c.1936C>G (p.Pro646Ala)
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_001018115.3(FANCD2):c.2549T>C (p.Ile850Thr)
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2623G>T (p.Asp875Tyr) rs2125048443
NM_001018115.3(FANCD2):c.274-12A>G
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
NM_001018115.3(FANCD2):c.413T>C (p.Leu138Pro) rs1174325302

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