ClinVar Miner

List of variants in gene FANCI reported by Mendelics

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Gene type:
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Total variants: 6
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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.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_001113378.2(FANCI):c.1583+4T>C
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073

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