ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001113378.1(FANCI):c.3925-84_3925-81dup rs1444126104
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)
NM_001113378.1(FANCI):c.3977G>T (p.Arg1326Met)
NM_002693.2(POLG):c.*122G>A rs886051517
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.3644-246A>C rs886051521
NM_002693.2(POLG):c.3644-72C>A rs1801377
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) rs144346886

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