ClinVar Miner

List of variants in gene FANCA studied for not provided

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Gene type:
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Total variants: 116
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HGVS dbSNP
GRCh37/hg19 16q24.3(chr16:89821155-89854723)x3
GRCh37/hg19 16q24.3(chr16:89828385-89858029)x1
GRCh37/hg19 16q24.3(chr16:89869667-89874775)x1
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606
NM_000135.4(FANCA):c.105T>C (p.Tyr35=) rs747928827
NM_000135.4(FANCA):c.1084-8T>C rs1466884693
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1146G>A (p.Gln382=) rs781015145
NM_000135.4(FANCA):c.1221T>C (p.Leu407=) rs780963734
NM_000135.4(FANCA):c.1226-6A>C rs200953509
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1359+5G>C rs183569738
NM_000135.4(FANCA):c.1360-13TC[2] rs1598140813
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) rs369988875
NM_000135.4(FANCA):c.1421T>C (p.Phe474Ser) rs1057524800
NM_000135.4(FANCA):c.1471-3C>G rs1291307989
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.1491C>T (p.Pro497=) rs979593313
NM_000135.4(FANCA):c.1509C>T (p.Tyr503=) rs1598136954
NM_000135.4(FANCA):c.1563C>T (p.Leu521=) rs995956285
NM_000135.4(FANCA):c.1567-1G>T rs1464032361
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.4(FANCA):c.1652T>C (p.Val551Ala) rs1331541085
NM_000135.4(FANCA):c.1686G>A (p.Gly562=) rs1457207387
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.1776+1G>A rs756140957
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.4(FANCA):c.1839C>T (p.Ile613=) rs1598120925
NM_000135.4(FANCA):c.1887A>G (p.Glu629=) rs769662954
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.190-7A>T rs994179410
NM_000135.4(FANCA):c.1901-5C>G rs1060504375
NM_000135.4(FANCA):c.1969C>T (p.Leu657=) rs889618840
NM_000135.4(FANCA):c.2115C>T (p.Ser705=) rs1158246204
NM_000135.4(FANCA):c.2172G>T (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2222+10C>T rs770711287
NM_000135.4(FANCA):c.228A>G (p.Lys76=) rs372180286
NM_000135.4(FANCA):c.2295C>G (p.Leu765=) rs1193622990
NM_000135.4(FANCA):c.2409G>C (p.Val803=) rs1598110129
NM_000135.4(FANCA):c.2445T>C (p.Pro815=) rs1489533103
NM_000135.4(FANCA):c.2477C>G (p.Thr826Arg) rs765888048
NM_000135.4(FANCA):c.2487C>T (p.Ser829=) rs776013293
NM_000135.4(FANCA):c.2505-10C>G rs1271668667
NM_000135.4(FANCA):c.2505-10_2505-9del rs766900188
NM_000135.4(FANCA):c.2505-30_2505-10del rs1598106124
NM_000135.4(FANCA):c.2529C>T (p.Tyr843=) rs1247378731
NM_000135.4(FANCA):c.2535C>T (p.Leu845=) rs1362752790
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2601+8C>T rs775561931
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) rs762804216
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2670C>T (p.Ser890=) rs1419813684
NM_000135.4(FANCA):c.2700T>C (p.Ser900=) rs755783870
NM_000135.4(FANCA):c.270T>C (p.Ser90=) rs1322323561
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2803C>T (p.Leu935=) rs1598096992
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2886C>T (p.His962=) rs1455455628
NM_000135.4(FANCA):c.2904G>T (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2915G>C (p.Gly972Ala) rs1555542929
NM_000135.4(FANCA):c.2985A>T (p.Ser995=) rs1598081370
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=) rs758384536
NM_000135.4(FANCA):c.3024T>C (p.Phe1008=) rs970239067
NM_000135.4(FANCA):c.309A>G (p.Ser103=) rs1284727333
NM_000135.4(FANCA):c.3102C>T (p.Leu1034=) rs1216824664
NM_000135.4(FANCA):c.3168C>T (p.Leu1056=) rs377633991
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu)
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=) rs762719233
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly) rs1057520051
NM_000135.4(FANCA):c.3348+18A>G rs1800347
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) rs946344673
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3513+10C>T rs1431403785
NM_000135.4(FANCA):c.3513+9G>C rs1394337237
NM_000135.4(FANCA):c.3534G>A (p.Glu1178=) rs1598067510
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=) rs1240994313
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) rs1313006784
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.3626+4C>T rs772166806
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) rs776001484
NM_000135.4(FANCA):c.3655G>A (p.Ala1219Thr) rs1064796909
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.405G>A (p.Val135=) rs1598190634
NM_000135.4(FANCA):c.427-8C>T rs750757532
NM_000135.4(FANCA):c.427-9T>C rs1598190255
NM_000135.4(FANCA):c.462T>C (p.Tyr154=) rs1598190143
NM_000135.4(FANCA):c.523-10T>C rs776200171
NM_000135.4(FANCA):c.523-9_523-7del rs777446762
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996
NM_000135.4(FANCA):c.586C>T (p.Leu196=) rs781718994
NM_000135.4(FANCA):c.675C>T (p.Cys225=) rs367717307
NM_000135.4(FANCA):c.690C>T (p.Val230=) rs942275917
NM_000135.4(FANCA):c.69C>G (p.Ala23=) rs746429608
NM_000135.4(FANCA):c.709+1G>C rs753211631
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.744dup (p.Lys249fs) rs1567645786
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220
NM_000135.4(FANCA):c.79+8G>T rs1210341859
NM_000135.4(FANCA):c.793-10A>G rs368979136
NM_000135.4(FANCA):c.793-1G>A rs1567642367
NM_000135.4(FANCA):c.80-8C>G rs749080227
NM_000135.4(FANCA):c.826+8A>G rs774666675
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.893+5G>C
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099

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