ClinVar Miner

List of variants in gene combination FANCI, POLG reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NG_008218.2:g.22853T>C rs777372106
NG_008218.2:g.23025C>G rs144346886
NG_008218.2:g.23094G>A rs758880377
NG_008218.2:g.23108A>G rs552236933
NG_008218.2:g.23167G>A rs886051517
NM_001113378.1(FANCI):c.*384A>G rs536522307
NM_001113378.1(FANCI):c.*440G>T rs1801377
NM_001113378.1(FANCI):c.*545_*547dupCTT rs1555452148
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_002693.2(POLG):c.*438_*441dupATCT rs1444126104
NM_002693.2(POLG):c.3644-9A>G rs115048121

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