ClinVar Miner

List of variants in gene combination FANCI, POLG reported as uncertain significance for aplastic anemia

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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NM_001113378.1(FANCI):c.*614T>G rs886051521
NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619
NM_001113378.1(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165
NM_001113378.1(FANCI):c.3965C>T (p.Ala1322Val) rs771174269
NM_001113378.1(FANCI):c.3977G>T (p.Arg1326Met) rs916916820
NM_002693.2(POLG):c.*122G>A rs886051517
NM_002693.2(POLG):c.*44G>C rs563185483
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.*63A>G rs552236933
NM_002693.2(POLG):c.3644-116T>C rs777372106
NM_002693.2(POLG):c.3644-16T>C rs536522307
NM_002693.2(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.2(POLG):c.3644-184T>C rs115758754
NM_002693.2(POLG):c.3644-72C>A rs1801377
NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) rs199751339
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_018193.3(FANCI):c.3745-84_3745-81dup rs1444126104

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