ClinVar Miner

List of variants in gene FANCA reported as likely benign by Genetic Services Laboratory, University of Chicago

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_000135.4(FANCA):c.1359+123C>G rs17232609 0.00178
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00172
NM_000135.4(FANCA):c.1360-10C>G rs150836356 0.00165
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn) rs111944585 0.00158
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341 0.00089
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314 0.00076
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098 0.00062
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597 0.00025
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571 0.00024
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000135.4(FANCA):c.342C>T (p.Ala114=) rs777989691 0.00010
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.2376T>C (p.Gly792=) rs756138062 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.2317-8C>T rs753766357 0.00005
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=) rs187074190 0.00004
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=) rs780031277 0.00003
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.1860C>A (p.Thr620=) rs1041601770 0.00001
NM_000135.4(FANCA):c.2316+7C>G rs1366206489 0.00001
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=) rs778275451 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.90C>G (p.Val30=) rs532713581 0.00001
NM_000135.4(FANCA):c.1620T>C (p.Ile540=) rs1200375986
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082

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