ClinVar Miner

List of variants studied for Fanconi anemia complementation group O by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_058216.3(RAD51C):c.721G>A (p.Val241Met) rs184033132 0.00004
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253 0.00003
NM_058216.3(RAD51C):c.404+7T>C rs1350153132 0.00001
NM_058216.3(RAD51C):c.435A>G (p.Pro145=) rs555235745 0.00001
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val) rs531838785 0.00001
NM_058216.3(RAD51C):c.404+13G>A rs547506164
NM_058216.3(RAD51C):c.822T>G (p.Asn274Lys) rs2048501654
NM_058216.3(RAD51C):c.87T>C (p.Ser29=) rs786203249

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