ClinVar Miner

List of variants in gene combination FANCI, POLG reported as uncertain significance for Fanconi anemia, complementation group I

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Total variants: 14
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HGVS dbSNP
NM_001113378.2(FANCI):c.*614T>G rs886051521
NM_001113378.2(FANCI):c.*662C>G rs560246181
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
NM_002693.3(POLG):c.*100G>A rs770839560
NM_002693.3(POLG):c.*122G>A rs886051517
NM_002693.3(POLG):c.*44G>C rs563185483
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.*63A>G rs552236933
NM_002693.3(POLG):c.3644-116T>C rs777372106
NM_002693.3(POLG):c.3644-16T>C rs536522307
NM_002693.3(POLG):c.3644-184T>C rs115758754
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) rs144346886

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