ClinVar Miner

List of variants in gene FANCI reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) rs149223439 0.00028
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_001113378.2(FANCI):c.3006+11C>T rs372049835 0.00021
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=) rs150231327 0.00016
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_001113378.2(FANCI):c.882+10A>G rs370227185 0.00014
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.2097C>T (p.Tyr699=) rs148415946 0.00004
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) rs768234660 0.00003
NM_001113378.2(FANCI):c.3721-127_3721-126insGTACAA rs55725136

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