ClinVar Miner

List of variants in gene FANCI reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.1112+154G>C rs11073853 0.98284
NM_001113378.2(FANCI):c.756-87G>C rs7496308 0.47784
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_001113378.2(FANCI):c.756-148T>C rs7497351 0.47323
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_001113378.2(FANCI):c.503+81_503+82dup rs3075797 0.44353
NM_001113378.2(FANCI):c.1822-279T>C rs10163045 0.44036
NM_001113378.2(FANCI):c.3721-145T>G rs16943011 0.39842
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_001113378.2(FANCI):c.3006+187G>A rs12592110 0.37700
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_001113378.2(FANCI):c.545+30G>A rs1981624 0.37206
NM_001113378.2(FANCI):c.3006+176C>T rs12592258 0.36787
NM_001113378.2(FANCI):c.883-50G>A rs113970806 0.33133
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_001113378.2(FANCI):c.3925-251A>G rs976072 0.31638
NM_001113378.2(FANCI):c.2457-101G>A rs2283431 0.31553
NM_001113378.2(FANCI):c.1382-143A>C rs1990229 0.31490
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_001113378.2(FANCI):c.2292-271C>A rs35626905 0.29630
NM_001113378.2(FANCI):c.85-258G>C rs12900825 0.29549
NM_001113378.2(FANCI):c.1294-186G>A rs1599857 0.29525
NM_001113378.2(FANCI):c.2889+189G>C rs8036314 0.17607
NM_001113378.2(FANCI):c.-19-149A>G rs73475356 0.09640
NM_001113378.2(FANCI):c.158-121G>A rs11858046 0.08346
NM_001113378.2(FANCI):c.2456+263G>A rs28677848 0.08073
NM_001113378.2(FANCI):c.2292-296C>A rs11858045 0.08037
NM_001113378.2(FANCI):c.2292-120T>C rs11855524 0.07808
NM_001113378.2(FANCI):c.3651+220A>G rs16942991 0.07768
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_001113378.2(FANCI):c.669+103G>A rs73466680 0.05512
NM_001113378.2(FANCI):c.1698+265A>C rs9806645 0.05469
NM_001113378.2(FANCI):c.85-214A>G rs61024154 0.05448
NM_001113378.2(FANCI):c.1821+133G>T rs78519000 0.05425
NM_001113378.2(FANCI):c.3006+337A>C rs73472609 0.04976
NM_001113378.2(FANCI):c.1583+87G>A rs16942952 0.04682
NM_001113378.2(FANCI):c.1513-152C>T rs16942947 0.04674
NM_001113378.2(FANCI):c.3817-255T>C rs117760248 0.04666
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_001113378.2(FANCI):c.3350-109G>A rs8035175 0.04320
NM_001113378.2(FANCI):c.3255+93C>G rs2108599 0.04116
NM_001113378.2(FANCI):c.1294-285A>G rs73468710 0.04001
NM_001113378.2(FANCI):c.158-213G>A rs74031425 0.03755
NM_001113378.2(FANCI):c.3925-135G>A rs3176248 0.03625
NM_001113378.2(FANCI):c.3651+226G>A rs74847118 0.03573
NM_001113378.2(FANCI):c.975+42del rs753333895 0.03412
NM_001113378.2(FANCI):c.1294-8C>T rs16942931 0.03299
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969 0.03295
NM_001113378.2(FANCI):c.158-42G>T rs73466674 0.02657
NM_001113378.2(FANCI):c.3720+47G>A rs57899063 0.02607
NM_001113378.2(FANCI):c.1822-156T>C rs59237547 0.02451
NM_001113378.2(FANCI):c.3537+186A>G rs7182180 0.02411
NM_001113378.2(FANCI):c.3007-65G>A rs79223348 0.02290
NM_001113378.2(FANCI):c.975+42T>C rs16942922 0.02063
NM_001113378.2(FANCI):c.3816+28A>G rs16943015 0.01801
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_001113378.2(FANCI):c.976-112T>C rs117553142 0.01727
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798 0.01679
NM_001113378.2(FANCI):c.85-206A>G rs7167017 0.01635
NM_001113378.2(FANCI):c.868G>A (p.Val290Met) rs113772230 0.01634
NM_001113378.2(FANCI):c.3652-192C>T rs57405086 0.01433
NM_001113378.2(FANCI):c.1699-274G>A rs116496706 0.01356
NM_001113378.2(FANCI):c.976-225T>A rs149887102 0.01349
NM_001113378.2(FANCI):c.756-164T>C rs112140323 0.01259
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339 0.01219
NM_001113378.2(FANCI):c.756-313A>G rs150234084 0.01149
NM_001113378.2(FANCI):c.84+150A>G rs28551554 0.00956
NM_001113378.2(FANCI):c.84+131A>G rs28457614 0.00954
NM_001113378.2(FANCI):c.3538-239C>A rs140195823 0.00948
NM_001113378.2(FANCI):c.2890-145G>T rs28562718 0.00839
NM_001113378.2(FANCI):c.3006+103T>A rs75439555 0.00797
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_001113378.2(FANCI):c.1890+48G>A rs114622772 0.00738
NM_001113378.2(FANCI):c.2804-75A>G rs145405529 0.00728
NM_001113378.2(FANCI):c.670-227G>A rs78815983 0.00724
NM_001113378.2(FANCI):c.289-163T>C rs75278394 0.00722
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001113378.2(FANCI):c.84+235A>C rs150624835 0.00634
NM_001113378.2(FANCI):c.2291+221A>G rs75529282 0.00621
NM_001113378.2(FANCI):c.1992+80T>C rs8031831 0.00575
NM_001113378.2(FANCI):c.2291+251C>G rs114492566 0.00569
NM_001113378.2(FANCI):c.3007-41T>C rs28517718 0.00500
NM_001113378.2(FANCI):c.3924+39C>T rs75481599 0.00426
NM_001113378.2(FANCI):c.546-99T>C rs75598501 0.00342
NM_001113378.2(FANCI):c.975+255A>T rs140069732 0.00286
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001113378.2(FANCI):c.755+215C>G rs150286614 0.00280
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233 0.00124
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714 0.00020
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile) rs199726965 0.00019
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro) rs554876309 0.00019
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val) rs141879625 0.00010
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) rs139072231 0.00007
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) rs752114490 0.00004
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly) rs1262508273 0.00002
NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile) rs201796281 0.00002
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) rs752028405 0.00002
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824 0.00002
NM_001113378.2(FANCI):c.3139C>T (p.Arg1047Cys) rs1429500240 0.00001
NM_001113378.2(FANCI):c.1294-89A>G rs73468711
NM_001113378.2(FANCI):c.1355C>T (p.Ala452Val) rs1064796848
NM_001113378.2(FANCI):c.1513-52C>G rs8027937
NM_001113378.2(FANCI):c.1821+51del rs144738122
NM_001113378.2(FANCI):c.1822-8C>A rs1299091267
NM_001113378.2(FANCI):c.1891-261T>C
NM_001113378.2(FANCI):c.2457-272dup
NM_001113378.2(FANCI):c.2457-273_2457-272insCCAA rs71464461
NM_001113378.2(FANCI):c.2457-308_2457-307del rs112122784
NM_001113378.2(FANCI):c.2636+289_2636+290del rs373941070
NM_001113378.2(FANCI):c.2636+290del rs373941070
NM_001113378.2(FANCI):c.2889+128G>A rs11857748
NM_001113378.2(FANCI):c.2889+275A>G
NM_001113378.2(FANCI):c.289-306dup rs200313839
NM_001113378.2(FANCI):c.289-319G>A rs142255814
NM_001113378.2(FANCI):c.2890-322G>T rs2238303
NM_001113378.2(FANCI):c.2890-44C>G rs141782480
NM_001113378.2(FANCI):c.3007-216T>C rs7495763
NM_001113378.2(FANCI):c.3059-178C>T rs139843745
NM_001113378.2(FANCI):c.3059-322del rs5814364
NM_001113378.2(FANCI):c.3059-322dup rs5814364
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp) rs1555442689
NM_001113378.2(FANCI):c.3526C>G (p.Leu1176Val) rs2054710106
NM_001113378.2(FANCI):c.3652-191G>T rs59499939
NM_001113378.2(FANCI):c.3652-69del rs11321073
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001113378.2(FANCI):c.3652-70_3652-69dup rs11321073
NM_001113378.2(FANCI):c.3721-127_3721-126insGTACAA rs55725136
NM_001113378.2(FANCI):c.3721-39T>C rs16943013
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) rs2152017390
NM_001113378.2(FANCI):c.3816+127_3816+129del rs550254868
NM_001113378.2(FANCI):c.3816+139C>T rs868672734
NM_001113378.2(FANCI):c.3816+93G>C
NM_001113378.2(FANCI):c.419A>G (p.Lys140Arg) rs2052718416
NM_001113378.2(FANCI):c.503+203A>T rs28667701
NM_001113378.2(FANCI):c.503+221G>A rs79622975
NM_001113378.2(FANCI):c.756-134T>G
NM_001113378.2(FANCI):c.756-248A>G
NM_001113378.2(FANCI):c.84+114G>A rs28635206
NM_001113378.2(FANCI):c.882+139del rs550024879
NM_001113378.2(FANCI):c.882+139dup rs550024879
NM_001113378.2(FANCI):c.883-50_883-46del rs573813614
NM_001113378.2(FANCI):c.883-50_883-47del rs1443335632
NM_001113378.2(FANCI):c.883-51del rs59945953
NM_001113378.2(FANCI):c.883-67del rs10707260
NM_001113378.2(FANCI):c.975+286_975+288del rs71149288
NM_001113378.2(FANCI):c.975+43A>C rs763860993
NM_001113378.2(FANCI):c.975+43A>G rs763860993
NM_001113378.2(FANCI):c.975+44A>C rs752942375
NM_001113378.2(FANCI):c.975+64_975+66del rs34985075
NM_001113378.2(FANCI):c.975+64_975+66dup rs34985075
NM_001113378.2(FANCI):c.975+65_975+66del rs34985075
NM_001113378.2(FANCI):c.975+66del rs34985075
NM_001113378.2(FANCI):c.975+66dup rs34985075

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