ClinVar Miner

List of variants studied for Fanconi anemia complementation group I by Revvity Omics, Revvity

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714 0.00020
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)
NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)

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