ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3643+257T>G rs1061316 0.48343
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001

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