ClinVar Miner

List of variants in gene FANCA reported as likely benign for Fanconi anemia complementation group A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP
NM_000135.2(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.2(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.2(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.2(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.2(FANCA):c.1360-7C>T rs17232616
NM_000135.2(FANCA):c.1701C>T (p.Thr567=) rs745466726
NM_000135.2(FANCA):c.1901-5C>G rs1060504375
NM_000135.2(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.2(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.2(FANCA):c.2101A>G (p.Lys701Glu) rs56369086
NM_000135.2(FANCA):c.2124G>A (p.Thr708=) rs201668358
NM_000135.2(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.2(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.2(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.2(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.2(FANCA):c.2292G>A (p.Arg764=) rs56267906
NM_000135.2(FANCA):c.2391G>A (p.Ala797=) rs147882314
NM_000135.2(FANCA):c.2478G>A (p.Thr826=) rs147283549
NM_000135.2(FANCA):c.2505-10_2505-9delCT rs766900188
NM_000135.2(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.2(FANCA):c.2602-9_2602-8delCT rs577636020
NM_000135.2(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
NM_000135.2(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.2(FANCA):c.2779-7T>C rs17233253
NM_000135.2(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.2(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.2(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.2(FANCA):c.2904G>T (p.Ser968=) rs568354015
NM_000135.2(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.2(FANCA):c.2994T>C (p.Tyr998=) rs758384536
NM_000135.2(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616
NM_000135.2(FANCA):c.3067-4T>C rs17227064
NM_000135.2(FANCA):c.3183C>T (p.Ser1061=) rs1800346
NM_000135.2(FANCA):c.324C>T (p.Pro108=) rs775822054
NM_000135.2(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.2(FANCA):c.3348+7G>T rs185527578
NM_000135.2(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.2(FANCA):c.3409-6C>T rs377428227
NM_000135.2(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.2(FANCA):c.3427C>G (p.Leu1143Val) rs61753269
NM_000135.2(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625
NM_000135.2(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.2(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.2(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.2(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.2(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.2(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.2(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.2(FANCA):c.793-9T>C rs757500718
NM_000135.2(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.2(FANCA):c.87G>A (p.Arg29=) rs760787108
NM_000135.2(FANCA):c.894-8A>G rs11648881
NM_000135.2(FANCA):c.897C>T (p.Phe299=) rs765341703
NM_000135.3(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.3(FANCA):c.1194C>T (p.Val398=) rs1158857420
NM_000135.3(FANCA):c.1203A>G (p.Pro401=) rs1180493781
NM_000135.3(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.3(FANCA):c.1360-4A>G rs746911316
NM_000135.3(FANCA):c.1365C>T (p.Ser455=) rs897548553
NM_000135.3(FANCA):c.1419G>C (p.Leu473=) rs1337670144
NM_000135.3(FANCA):c.1461G>A (p.Arg487=) rs770851522
NM_000135.3(FANCA):c.1471-8A>G rs374717514
NM_000135.3(FANCA):c.1537T>C (p.Leu513=) rs144118098
NM_000135.3(FANCA):c.169C>T (p.Leu57=) rs368828271
NM_000135.3(FANCA):c.1710G>A (p.Glu570=) rs17226344
NM_000135.3(FANCA):c.1740G>A (p.Val580=) rs1400163791
NM_000135.3(FANCA):c.1872C>A (p.Ala624=) rs571449307
NM_000135.3(FANCA):c.189+7G>A rs369985388
NM_000135.3(FANCA):c.1900+7T>A rs377401016
NM_000135.3(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.3(FANCA):c.2222+9G>A rs774316742
NM_000135.3(FANCA):c.2222+9G>C rs774316742
NM_000135.3(FANCA):c.2317-8C>T rs753766357
NM_000135.3(FANCA):c.2502G>A (p.Leu834=) rs770993950
NM_000135.3(FANCA):c.2589C>A (p.Gly863=) rs72807571
NM_000135.3(FANCA):c.2637C>T (p.Ala879=) rs149435806
NM_000135.3(FANCA):c.2981+4dup rs75004096
NM_000135.3(FANCA):c.308C>T (p.Ser103Leu) rs147176389
NM_000135.3(FANCA):c.3168C>T (p.Leu1056=) rs377633991
NM_000135.3(FANCA):c.3409-6C>G rs377428227
NM_000135.3(FANCA):c.3450G>A (p.Leu1150=) rs1266179547
NM_000135.3(FANCA):c.3576G>A (p.Pro1192=) rs553086820
NM_000135.3(FANCA):c.3627-7G>C rs1161905441
NM_000135.3(FANCA):c.3669C>T (p.Asp1223=) rs187074190
NM_000135.3(FANCA):c.537T>G (p.Leu179=) rs749811331
NM_000135.3(FANCA):c.543G>A (p.Ala181=) rs143314367
NM_000135.3(FANCA):c.596+6G>A rs369548513
NM_000135.3(FANCA):c.793-5G>T rs1461529538
NM_000135.3(FANCA):c.924C>T (p.Gly308=) rs143255238
NM_000135.3(FANCA):c.948G>A (p.Leu316=) rs767146506
NM_001286167.2(FANCA):c.1573A>G (p.Ile525Val) rs755925068

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