ClinVar Miner

List of variants in gene FANCI reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 33
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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.1573A>G (p.Met525Val) rs144908351 0.00282
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.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val) rs114549781 0.00150
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233 0.00124
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656 0.00024
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=) rs199627578 0.00012
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=) rs567952571 0.00011
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) rs112932178 0.00010
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=) rs201871288 0.00002
NM_001113378.2(FANCI):c.1956G>C (p.Leu652=) rs770437879 0.00001
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=) rs767103109 0.00001
NM_001113378.2(FANCI):c.3721-1G>C rs1173483373 0.00001
NM_001113378.2(FANCI):c.1119T>C (p.His373=)
NM_001113378.2(FANCI):c.1641T>C (p.Phe547=)
NM_001113378.2(FANCI):c.1914A>G (p.Lys638=)
NM_001113378.2(FANCI):c.1954C>T (p.Leu652=) rs1433980751
NM_001113378.2(FANCI):c.2209A>G (p.Ile737Val)
NM_001113378.2(FANCI):c.2457-2A>G rs2054196709
NM_001113378.2(FANCI):c.3652-1186T>C
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.727C>G (p.Gln243Glu)

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