ClinVar Miner

List of variants in gene FANCA reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000135.4(FANCA):c.893+58A>T rs199624319 0.00094
NM_000135.4(FANCA):c.3514-13G>A rs200270574 0.00056
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000135.4(FANCA):c.893+19C>G rs377406711 0.00051
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479 0.00037
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300 0.00031
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000 0.00022
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
NM_000135.4(FANCA):c.2504+6C>G rs749556479 0.00016
NM_000135.4(FANCA):c.3409-9C>G rs368943794 0.00016
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000135.4(FANCA):c.3240-11C>G rs138826926 0.00014
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.2842G>C (p.Asp948His) rs778254482 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) rs747322973 0.00010
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) rs376888740 0.00010
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960 0.00008
NM_000135.4(FANCA):c.2981+4dup rs75004096 0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748 0.00007
NM_000135.4(FANCA):c.1226-4C>G rs934483477 0.00006
NM_000135.4(FANCA):c.1312G>A (p.Ala438Thr) rs752587443 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 0.00006
NM_000135.4(FANCA):c.1359+5G>C rs183569738 0.00004
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) rs761957732 0.00004
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) rs142869950 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315 0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn) rs375630115 0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657 0.00003
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) rs143083764 0.00003
NM_000135.4(FANCA):c.1901-9T>C rs886052486 0.00003
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) rs1306842168 0.00003
NM_000135.4(FANCA):c.2014+12T>A rs370998253 0.00003
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229 0.00003
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323 0.00003
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726 0.00003
NM_000135.4(FANCA):c.1007-3C>T rs557382436 0.00002
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093 0.00002
NM_000135.4(FANCA):c.2979A>G (p.Gln993=) rs761577170 0.00002
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171 0.00002
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) rs1419279017 0.00002
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu) rs376089640 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met) rs972127356 0.00002
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu) rs143570168 0.00002
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996 0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220 0.00002
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys) rs375895456 0.00001
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe) rs751071791 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys) rs748907151 0.00001
NM_000135.4(FANCA):c.1471-3C>G rs1291307989 0.00001
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn) rs775853544 0.00001
NM_000135.4(FANCA):c.1652T>C (p.Val551Ala) rs1331541085 0.00001
NM_000135.4(FANCA):c.1716-10T>G rs1270971513 0.00001
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys) rs765036744 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu) rs148203537 0.00001
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln) rs1054636249 0.00001
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu) rs1352100383 0.00001
NM_000135.4(FANCA):c.2504+10T>G rs770043372 0.00001
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly) rs758619078 0.00001
NM_000135.4(FANCA):c.283+9T>C rs779593295 0.00001
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418 0.00001
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr) rs752735858 0.00001
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met) rs140124051 0.00001
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp) rs760392231 0.00001
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys) rs764206631 0.00001
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu) rs149903404 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3629T>C (p.Phe1210Ser) rs1250230818 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys) rs766875357 0.00001
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly) rs770716257 0.00001
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) rs747651383 0.00001
NM_000135.4(FANCA):c.488G>A (p.Arg163His) rs375648811 0.00001
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys) rs758528624 0.00001
NM_000135.4(FANCA):c.571G>T (p.Val191Leu) rs1429483489 0.00001
NM_000135.4(FANCA):c.596+5C>T rs758345423 0.00001
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr) rs764157478 0.00001
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317 0.00001
NM_000135.4(FANCA):c.882C>G (p.Ile294Met) rs754520622 0.00001
NM_000135.4(FANCA):c.917C>T (p.Thr306Met) rs370852532 0.00001
NM_000135.3:c.-43_1900dup
NM_000135.3:c.-43_283dup
NM_000135.4(FANCA):c.1006+6C>T
NM_000135.4(FANCA):c.1007-3C>A
NM_000135.4(FANCA):c.1048_1049delinsGT (p.Arg350Val) rs2143534546
NM_000135.4(FANCA):c.1113G>C (p.Leu371Phe)
NM_000135.4(FANCA):c.1336C>G (p.Leu446Val)
NM_000135.4(FANCA):c.1348G>C (p.Asp450His)
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly) rs2040072996
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr) rs1190475225
NM_000135.4(FANCA):c.141T>C (p.Ala47=)
NM_000135.4(FANCA):c.1421T>C (p.Phe474Ser) rs1057524800
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly) rs929925295
NM_000135.4(FANCA):c.1511G>A (p.Arg504His) rs778045457
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe)
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1566+3A>G
NM_000135.4(FANCA):c.1609G>T (p.Ala537Ser) rs2143458979
NM_000135.4(FANCA):c.1615G>A (p.Asp539Asn) rs2039767633
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro) rs2039644384
NM_000135.4(FANCA):c.1663A>C (p.Ile555Leu) rs1335514576
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1749C>G (p.Phe583Leu) rs2039611242
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-3C>G
NM_000135.4(FANCA):c.1817C>G (p.Ser606Cys) rs2143422330
NM_000135.4(FANCA):c.1915G>C (p.Val639Leu)
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala) rs147300317
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
NM_000135.4(FANCA):c.2032G>T (p.Ala678Ser)
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro) rs767631694
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys) rs774565293
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2201C>T (p.Ser734Phe) rs753460067
NM_000135.4(FANCA):c.2222+4A>G
NM_000135.4(FANCA):c.2247C>G (p.Phe749Leu) rs772842754
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) rs747723074
NM_000135.4(FANCA):c.2260T>G (p.Cys754Gly)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2316+13T>C rs2143335460
NM_000135.4(FANCA):c.2321C>A (p.Pro774Gln)
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg) rs545765795
NM_000135.4(FANCA):c.2410G>T (p.Gly804Cys) rs2039264268
NM_000135.4(FANCA):c.2424T>C (p.Pro808=)
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
NM_000135.4(FANCA):c.2434C>T (p.Leu812Phe)
NM_000135.4(FANCA):c.2477C>G (p.Thr826Arg) rs765888048
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met) rs765888048
NM_000135.4(FANCA):c.2722C>T (p.Leu908Phe)
NM_000135.4(FANCA):c.2778+7_2778+36del rs1253945933
NM_000135.4(FANCA):c.2808G>C (p.Glu936Asp) rs2038968727
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2915G>C (p.Gly972Ala) rs1555542929
NM_000135.4(FANCA):c.2965A>G (p.Met989Val)
NM_000135.4(FANCA):c.3007A>T (p.Asn1003Tyr) rs1168739564
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys) rs762111755
NM_000135.4(FANCA):c.3112C>T (p.Leu1038Phe)
NM_000135.4(FANCA):c.3157C>G (p.Arg1053Gly)
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) rs753063086
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val) rs964650941
NM_000135.4(FANCA):c.3256C>T (p.Pro1086Ser)
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His) rs1433848980
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly) rs1057520051
NM_000135.4(FANCA):c.3416T>A (p.Leu1139Gln) rs2143106961
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)
NM_000135.4(FANCA):c.3544C>T (p.Leu1182Phe) rs2143088090
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3652C>A (p.Pro1218Thr) rs1555535564
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)
NM_000135.4(FANCA):c.3655G>A (p.Ala1219Thr) rs1064796909
NM_000135.4(FANCA):c.3683C>A (p.Ala1228Asp)
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr) rs374945563
NM_000135.4(FANCA):c.389A>T (p.Glu130Val)
NM_000135.4(FANCA):c.426+6A>G
NM_000135.4(FANCA):c.454G>C (p.Ala152Pro) rs2143677716
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
NM_000135.4(FANCA):c.522+6T>C
NM_000135.4(FANCA):c.522+7T>C
NM_000135.4(FANCA):c.523-19GTTTT[2] rs755643283
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
NM_000135.4(FANCA):c.617T>C (p.Val206Ala)
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp) rs144420697
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser) rs746814384
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe) rs1316244239
NM_000135.4(FANCA):c.744dup (p.Lys249fs) rs1567645786
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.819G>T (p.Met273Ile)
NM_000135.4(FANCA):c.85A>G (p.Arg29Gly)
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.883G>A (p.Val295Met)
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu) rs745451374
NM_000135.4(FANCA):c.914A>C (p.His305Pro)
NM_000135.4(FANCA):c.921T>G (p.Leu307=)
NM_000135.4(FANCA):c.927T>A (p.Ser309Arg)

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