ClinVar Miner

List of variants in gene FANCI reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
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.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met) rs191202700 0.00022
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) rs112387610 0.00019
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=) rs150231327 0.00016
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly) rs149008055 0.00006
NM_001113378.2(FANCI):c.288+10C>T rs370505986 0.00006
NM_001113378.2(FANCI):c.1704T>C (p.His568=) rs200990786 0.00005
NM_001113378.2(FANCI):c.1891-3C>T rs371578898 0.00005
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=) rs368915464 0.00004
NM_001113378.2(FANCI):c.3720+10T>C rs756636181 0.00004
NM_001113378.2(FANCI):c.1557T>C (p.Leu519=) rs138767485 0.00001
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=) rs767103109 0.00001
NM_001113378.2(FANCI):c.-2C>A
NM_001113378.2(FANCI):c.1059A>T (p.Leu353=)
NM_001113378.2(FANCI):c.1381+9C>T
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.2(FANCI):c.3006+6A>C
NM_001113378.2(FANCI):c.3256-9_3256-8del rs752376850
NM_001113378.2(FANCI):c.3652-10A>G rs202231175
NM_001113378.2(FANCI):c.660C>G (p.Leu220=)

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