ClinVar Miner

List of variants in gene FANCA reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634 0.00282
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00172
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482 0.00166
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801 0.00137
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
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.2364C>T (p.Ala788=) rs149754397 0.00064
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098 0.00062
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367 0.00035
NM_000135.4(FANCA):c.2478G>A (p.Thr826=) rs147283549 0.00030
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571 0.00024
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753 0.00015
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val) rs550821697 0.00012
NM_000135.4(FANCA):c.1536A>C (p.Ser512=) rs766580461 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000135.4(FANCA):c.3168C>T (p.Leu1056=) rs377633991 0.00011
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581 0.00010
NM_000135.4(FANCA):c.342C>T (p.Ala114=) rs777989691 0.00010
NM_000135.4(FANCA):c.3711C>G (p.Val1237=) rs776879032 0.00010
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.3138C>T (p.His1046=) rs150884376 0.00009
NM_000135.4(FANCA):c.1332G>A (p.Ala444=) rs377705748 0.00007
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068 0.00007
NM_000135.4(FANCA):c.303A>G (p.Gln101=) rs199552612 0.00007
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.3615G>A (p.Gln1205=) rs368349576 0.00007
NM_000135.4(FANCA):c.918G>A (p.Thr306=) rs199634699 0.00007
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.537T>G (p.Leu179=) rs749811331 0.00006
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) rs1460026241 0.00004
NM_000135.4(FANCA):c.1887A>G (p.Glu629=) rs769662954 0.00004
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000135.4(FANCA):c.2088C>T (p.Ser696=) rs150917432 0.00004
NM_000135.4(FANCA):c.2371C>T (p.Leu791=) rs541949982 0.00004
NM_000135.4(FANCA):c.3261G>A (p.Ser1087=) rs139126509 0.00004
NM_000135.4(FANCA):c.3552G>A (p.Arg1184=) rs774029286 0.00004
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820 0.00004
NM_000135.4(FANCA):c.3693C>T (p.His1231=) rs144524132 0.00004
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.1593C>T (p.Tyr531=) rs762342197 0.00003
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283 0.00003
NM_000135.4(FANCA):c.2964G>C (p.Leu988=) rs751495133 0.00003
NM_000135.4(FANCA):c.3024T>C (p.Phe1008=) rs970239067 0.00003
NM_000135.4(FANCA):c.1236G>A (p.Ala412=) rs371993688 0.00002
NM_000135.4(FANCA):c.1959C>T (p.Leu653=) rs368643963 0.00002
NM_000135.4(FANCA):c.1969C>T (p.Leu657=) rs889618840 0.00002
NM_000135.4(FANCA):c.228A>G (p.Lys76=) rs372180286 0.00002
NM_000135.4(FANCA):c.3714G>A (p.Arg1238=) rs368437504 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108 0.00002
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447 0.00002
NM_000135.4(FANCA):c.1068C>G (p.Thr356=) rs1161525939 0.00001
NM_000135.4(FANCA):c.1194C>T (p.Val398=) rs1158857420 0.00001
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) rs1180493781 0.00001
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553 0.00001
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) rs1337670144 0.00001
NM_000135.4(FANCA):c.1491C>T (p.Pro497=) rs979593313 0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=) rs139276494 0.00001
NM_000135.4(FANCA):c.1587A>T (p.Gly529=) rs1300063021 0.00001
NM_000135.4(FANCA):c.1725G>A (p.Arg575=) rs551108542 0.00001
NM_000135.4(FANCA):c.1860C>A (p.Thr620=) rs1041601770 0.00001
NM_000135.4(FANCA):c.2124G>A (p.Thr708=) rs201668358 0.00001
NM_000135.4(FANCA):c.2199C>T (p.Ala733=) rs757095786 0.00001
NM_000135.4(FANCA):c.2247C>T (p.Phe749=) rs772842754 0.00001
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451 0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=) rs765883419 0.00001
NM_000135.4(FANCA):c.2481G>A (p.Arg827=) rs749895479 0.00001
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484 0.00001
NM_000135.4(FANCA):c.2748C>T (p.Phe916=) rs755154360 0.00001
NM_000135.4(FANCA):c.2922C>T (p.Asp974=) rs756241886 0.00001
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) rs762638564 0.00001
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=) rs758384536 0.00001
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) rs35402142 0.00001
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=) rs778275451 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.324C>T (p.Pro108=) rs775822054 0.00001
NM_000135.4(FANCA):c.3447C>T (p.Ser1149=) rs2038400334 0.00001
NM_000135.4(FANCA):c.3448C>T (p.Leu1150=) rs369073173 0.00001
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=) rs768306527 0.00001
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=) rs765106818 0.00001
NM_000135.4(FANCA):c.3561A>G (p.Arg1187=) rs781679210 0.00001
NM_000135.4(FANCA):c.3660C>T (p.Pro1220=) rs751703958 0.00001
NM_000135.4(FANCA):c.3720A>G (p.Glu1240=) rs2062170339 0.00001
NM_000135.4(FANCA):c.3736C>T (p.Leu1246=) rs2062169927 0.00001
NM_000135.4(FANCA):c.3738A>G (p.Leu1246=) rs2062169862 0.00001
NM_000135.4(FANCA):c.546G>A (p.Val182=) rs766417293 0.00001
NM_000135.4(FANCA):c.675C>T (p.Cys225=) rs367717307 0.00001
NM_000135.4(FANCA):c.90C>G (p.Val30=) rs532713581 0.00001
NM_000135.4(FANCA):c.96G>A (p.Arg32=) rs1381349863 0.00001
NM_000135.4(FANCA):c.1065C>T (p.Leu355=) rs373366147
NM_000135.4(FANCA):c.1068C>T (p.Thr356=) rs1161525939
NM_000135.4(FANCA):c.1072C>T (p.Leu358=) rs748337423
NM_000135.4(FANCA):c.1086C>G (p.Leu362=)
NM_000135.4(FANCA):c.1135C>T (p.Leu379=) rs969577700
NM_000135.4(FANCA):c.1155C>T (p.His385=)
NM_000135.4(FANCA):c.1218G>A (p.Leu406=) rs2040090132
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1294C>T (p.Leu432=) rs1232228823
NM_000135.4(FANCA):c.1296G>C (p.Leu432=)
NM_000135.4(FANCA):c.1326C>A (p.Pro442=)
NM_000135.4(FANCA):c.1335C>T (p.Phe445=)
NM_000135.4(FANCA):c.1344T>C (p.Tyr448=)
NM_000135.4(FANCA):c.1383C>G (p.Gly461=)
NM_000135.4(FANCA):c.1437A>G (p.Glu479=) rs2143476678
NM_000135.4(FANCA):c.1476C>T (p.His492=)
NM_000135.4(FANCA):c.147C>G (p.Arg49=) rs762962148
NM_000135.4(FANCA):c.1503C>G (p.Gly501=)
NM_000135.4(FANCA):c.1542C>T (p.Ala514=) rs962460972
NM_000135.4(FANCA):c.1551G>A (p.Arg517=)
NM_000135.4(FANCA):c.1563C>A (p.Leu521=)
NM_000135.4(FANCA):c.1581C>T (p.Asn527=) rs1244511322
NM_000135.4(FANCA):c.1632C>T (p.His544=)
NM_000135.4(FANCA):c.1701C>A (p.Thr567=) rs745466726
NM_000135.4(FANCA):c.1773A>C (p.Arg591=) rs2143423976
NM_000135.4(FANCA):c.1779C>A (p.Leu593=) rs1016801509
NM_000135.4(FANCA):c.177C>A (p.Ala59=) rs1439661268
NM_000135.4(FANCA):c.1908C>G (p.Ala636=)
NM_000135.4(FANCA):c.1910T>C (p.Leu637Pro)
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.203T>C (p.Leu68Pro)
NM_000135.4(FANCA):c.2043T>G (p.Ser681=)
NM_000135.4(FANCA):c.2112C>T (p.Leu704=)
NM_000135.4(FANCA):c.2124G>T (p.Thr708=)
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2172G>T (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2244C>G (p.Leu748=)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2325C>T (p.Ser775=) rs545765795
NM_000135.4(FANCA):c.2364C>A (p.Ala788=) rs149754397
NM_000135.4(FANCA):c.2430T>A (p.Ala810=)
NM_000135.4(FANCA):c.2463C>T (p.Leu821=)
NM_000135.4(FANCA):c.2493C>T (p.Phe831=)
NM_000135.4(FANCA):c.2535C>A (p.Leu845=)
NM_000135.4(FANCA):c.255C>A (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.2562T>C (p.Asp854=)
NM_000135.4(FANCA):c.2721C>G (p.Ala907=) rs775013707
NM_000135.4(FANCA):c.2726C>G (p.Ser909Cys)
NM_000135.4(FANCA):c.2743A>G (p.Thr915Ala)
NM_000135.4(FANCA):c.2828C>T (p.Ala943Val)
NM_000135.4(FANCA):c.2892C>T (p.Leu964=) rs2143225154
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2928C>T (p.Asp976=) rs1389873954
NM_000135.4(FANCA):c.2946C>A (p.Thr982=)
NM_000135.4(FANCA):c.2960C>T (p.Ala987Val)
NM_000135.4(FANCA):c.2997C>T (p.Asp999=) rs1393198725
NM_000135.4(FANCA):c.3009T>C (p.Asn1003=) rs1001303157
NM_000135.4(FANCA):c.3036A>G (p.Thr1012=) rs2038617235
NM_000135.4(FANCA):c.3057C>A (p.Ser1019=)
NM_000135.4(FANCA):c.3102C>T (p.Leu1034=) rs1216824664
NM_000135.4(FANCA):c.3175C>T (p.Leu1059=)
NM_000135.4(FANCA):c.3207T>C (p.Leu1069=) rs2143138181
NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys)
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3273C>T (p.Cys1091=) rs1450151864
NM_000135.4(FANCA):c.345G>A (p.Gly115=)
NM_000135.4(FANCA):c.3480G>A (p.Gln1160=) rs983310870
NM_000135.4(FANCA):c.3486A>G (p.Lys1162=) rs746491969
NM_000135.4(FANCA):c.3591G>T (p.Leu1197=)
NM_000135.4(FANCA):c.3651C>A (p.Ser1217=)
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=) rs1051421921
NM_000135.4(FANCA):c.405G>A (p.Val135=) rs1598190634
NM_000135.4(FANCA):c.411G>C (p.Leu137=)
NM_000135.4(FANCA):c.423G>A (p.Gln141=) rs1598190596
NM_000135.4(FANCA):c.442C>T (p.Leu148=) rs2040846687
NM_000135.4(FANCA):c.558C>T (p.His186=) rs149159377
NM_000135.4(FANCA):c.768T>C (p.Thr256=) rs1459779461
NM_000135.4(FANCA):c.789G>A (p.Pro263=) rs34354932
NM_000135.4(FANCA):c.798G>A (p.Thr266=) rs767444643
NM_000135.4(FANCA):c.945T>C (p.Pro315=) rs760583815

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