ClinVar Miner

List of variants in gene FANCI reported as likely pathogenic for Fanconi anemia complementation group I

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00010
NM_001113378.2(FANCI):c.1891-2A>G rs776329920 0.00003
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter) rs1013628944 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001113378.2(FANCI):c.158-2A>G rs762128147 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs) rs2506958652 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001113378.2(FANCI):c.2456+1G>A rs1437269265 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter) rs965134950 0.00001
NM_001113378.2(FANCI):c.2804-2A>G rs747291682 0.00001
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 0.00001
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs) rs772733800 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter) rs771312042 0.00001
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter) rs886376531
NM_001113378.2(FANCI):c.1044dup (p.Phe349fs)
NM_001113378.2(FANCI):c.1055del (p.Asn352fs) rs2506226146
NM_001113378.2(FANCI):c.1112+2T>C rs2506231338
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs) rs2506447938
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter) rs2053427139
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter) rs2506453150
NM_001113378.2(FANCI):c.1293+1G>T rs768310043
NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs) rs2506593745
NM_001113378.2(FANCI):c.1381+1G>A
NM_001113378.2(FANCI):c.1467del (p.Leu491fs) rs2506800550
NM_001113378.2(FANCI):c.1584-1G>A rs1567158538
NM_001113378.2(FANCI):c.1584-1G>C rs1567158538
NM_001113378.2(FANCI):c.165del (p.Cys56fs) rs769592464
NM_001113378.2(FANCI):c.1687del (p.Ser563fs)
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs) rs2506961673
NM_001113378.2(FANCI):c.1698+1G>A rs2506961955
NM_001113378.2(FANCI):c.1699-2A>C rs1429870785
NM_001113378.2(FANCI):c.1751del (p.Cys584fs) rs2507055972
NM_001113378.2(FANCI):c.1789C>T (p.Gln597Ter)
NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs) rs748003452
NM_001113378.2(FANCI):c.1888C>T (p.Gln630Ter)
NM_001113378.2(FANCI):c.1890+1G>T rs764306023
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter) rs2507355048
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs) rs2507356114
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs) rs1306035407
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter) rs749802895
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter) rs2507391791
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs) rs2507392821
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter) rs148415946
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter) rs2507394599
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer) rs2507395267
NM_001113378.2(FANCI):c.2194_2195del (p.Ser732fs)
NM_001113378.2(FANCI):c.220C>T (p.Gln74Ter)
NM_001113378.2(FANCI):c.2216del (p.Asn739fs) rs2507400397
NM_001113378.2(FANCI):c.2216dup (p.Asn739fs)
NM_001113378.2(FANCI):c.2291+2T>A rs1400441798
NM_001113378.2(FANCI):c.2331T>A (p.Cys777Ter)
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2340del (p.Lys780fs) rs2054158750
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.2364del (p.Ala789fs)
NM_001113378.2(FANCI):c.238dup (p.Asp80fs) rs772959965
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter) rs1173818227
NM_001113378.2(FANCI):c.249del (p.Glu84fs) rs2505880000
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533
NM_001113378.2(FANCI):c.2578del (p.Ser860fs) rs2507512023
NM_001113378.2(FANCI):c.2626del (p.Asp876fs) rs2507514974
NM_001113378.2(FANCI):c.2630_2631del (p.Ile877fs)
NM_001113378.2(FANCI):c.2637-1G>T rs1198815779
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs) rs779146752
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs) rs2054462667
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs) rs745893292
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter) rs2507839621
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2804-2A>T rs747291682
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs) rs1479409508
NM_001113378.2(FANCI):c.2889+1G>A rs2507880932
NM_001113378.2(FANCI):c.289-2A>G rs2505904065
NM_001113378.2(FANCI):c.2890-2A>C rs1209869642
NM_001113378.2(FANCI):c.2907_2908del (p.Leu969fs) rs2507933457
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs) rs1235080486
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter) rs2507936447
NM_001113378.2(FANCI):c.3007-1G>C rs117921863
NM_001113378.2(FANCI):c.3007-1G>T rs117921863
NM_001113378.2(FANCI):c.3079_3088delinsTTCTT (p.Ser1027fs)
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter) rs2151913256
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs) rs2508408921
NM_001113378.2(FANCI):c.3200_3201insCCAC (p.Glu1067fs) rs1244949795
NM_001113378.2(FANCI):c.3242_3248dup (p.Val1084fs)
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs) rs2508460975
NM_001113378.2(FANCI):c.3352G>T (p.Glu1118Ter)
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter) rs548947826
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter) rs2508599743
NM_001113378.2(FANCI):c.3578dup (p.Asn1193fs) rs2151940628
NM_001113378.2(FANCI):c.358dup (p.Ser120fs) rs2505906188
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) rs1567175626
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter) rs760364969
NM_001113378.2(FANCI):c.3660_3663del (p.Ser1220fs)
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3688_3689del (p.Lys1230fs) rs2508879017
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs) rs2509016110
NM_001113378.2(FANCI):c.3805A>T (p.Lys1269Ter) rs2509016412
NM_001113378.2(FANCI):c.3816+2T>C
NM_001113378.2(FANCI):c.3829C>T (p.Gln1277Ter) rs2509077600
NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter) rs544848412
NM_001113378.2(FANCI):c.3924+2T>C rs1596343067
NM_001113378.2(FANCI):c.422del (p.Lys141fs) rs2505907513
NM_001113378.2(FANCI):c.446del rs2505910996
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs) rs767388018
NM_001113378.2(FANCI):c.490del (p.Leu164fs) rs2052723780
NM_001113378.2(FANCI):c.528del (p.Gln176fs)
NM_001113378.2(FANCI):c.545+1G>T
NM_001113378.2(FANCI):c.578_589del (p.Phe193_Lys197delinsTer) rs2505968895
NM_001113378.2(FANCI):c.669+1G>T rs745324944
NM_001113378.2(FANCI):c.685_686del (p.Val229fs) rs2505983529
NM_001113378.2(FANCI):c.701_702del (p.Ile234fs) rs2505983816
NM_001113378.2(FANCI):c.739del (p.Glu247fs) rs2505984516
NM_001113378.2(FANCI):c.745_746del (p.Ser249fs)
NM_001113378.2(FANCI):c.76_77del (p.Glu26fs) rs2505401937
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter) rs1465252834
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs) rs2053064127
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.85-1G>T rs1195350202
NM_001113378.2(FANCI):c.876_879del (p.His292fs) rs2053066105
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter) rs2506174334
NM_001113378.2(FANCI):c.912_916del (p.Asn304fs) rs2506174736
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs) rs2506220779
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725

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