ClinVar Miner

List of variants in gene FANCI reported as likely benign by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053

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