ClinVar Miner

List of variants studied for Fanconi anemia complementation group I by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001113378.2(FANCI):c.1537A>G (p.Met513Val) rs148780626 0.00003
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) rs751233975 0.00001
NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001113378.2(FANCI):c.545+1G>T

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