ClinVar Miner

List of variants in gene FANCI studied for not specified

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.2547= (p.Lys849=) rs7183618 0.95848
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
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.257C>T (p.Ala86Val) rs17803620 0.31885
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
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.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val) rs114549781 0.00150
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr) rs139181400 0.00031
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) rs149223439 0.00028
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_001113378.2(FANCI):c.3006+11C>T rs372049835 0.00021
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.3419C>T (p.Thr1140Ile) rs142969866 0.00019
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=) rs150231327 0.00016
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_001113378.2(FANCI):c.882+10A>G rs370227185 0.00014
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) rs933284199 0.00006
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln) rs142322239 0.00006
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939 0.00005
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412 0.00005
NM_001113378.2(FANCI):c.2097C>T (p.Tyr699=) rs148415946 0.00004
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln) rs772401747 0.00004
NM_001113378.2(FANCI):c.550G>C (p.Val184Leu) rs571745030 0.00004
NM_001113378.2(FANCI):c.1537A>G (p.Met513Val) rs148780626 0.00003
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) rs768234660 0.00003
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His) rs777483611 0.00003
NM_001113378.2(FANCI):c.326C>G (p.Ala109Gly) rs772968604 0.00003
NM_001113378.2(FANCI):c.3127G>A (p.Val1043Ile) rs757962931 0.00002
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val) rs142756279 0.00002
NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp) rs879531765 0.00001
NM_001113378.2(FANCI):c.2577G>C (p.Val859=) rs562877308 0.00001
NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln) rs776851666 0.00001
NM_001113378.2(FANCI):c.2918A>G (p.Gln973Arg) rs780663944 0.00001
NM_001113378.2(FANCI):c.3186+7_3186+8insG rs762412096 0.00001
NM_001113378.2(FANCI):c.3256-9T>C rs1464839356 0.00001
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg) rs1043718711 0.00001
NM_001113378.2(FANCI):c.3505A>G (p.Met1169Val) rs757606290 0.00001
NM_001113378.2(FANCI):c.3721-7C>T rs1434575390 0.00001
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val) rs768553208 0.00001
NM_001113378.2(FANCI):c.1000G>T (p.Val334Phe) rs2151452365
NM_001113378.2(FANCI):c.1241C>T (p.Pro414Leu) rs1555445341
NM_001113378.2(FANCI):c.1404G>A (p.Met468Ile) rs2053602013
NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg) rs1214081735
NM_001113378.2(FANCI):c.1522A>C (p.Lys508Gln) rs2151558518
NM_001113378.2(FANCI):c.1534T>G (p.Ser512Ala) rs1021545566
NM_001113378.2(FANCI):c.1698+11_1698+14del rs763550734
NM_001113378.2(FANCI):c.1698+4A>G rs1233338671
NM_001113378.2(FANCI):c.2349C>A (p.Asp783Glu) rs768234660
NM_001113378.2(FANCI):c.2457-8C>G rs2151754256
NM_001113378.2(FANCI):c.2536G>A (p.Ala846Thr) rs2151755196
NM_001113378.2(FANCI):c.3059-4dup rs1317953100
NM_001113378.2(FANCI):c.3078G>A (p.Lys1026=) rs2151913000
NM_001113378.2(FANCI):c.3591+4A>T rs774180579
NM_001113378.2(FANCI):c.3622C>T (p.Leu1208=) rs1448880215
NM_001113378.2(FANCI):c.3721-127_3721-126insGTACAA rs55725136
NM_001113378.2(FANCI):c.451C>G (p.Leu151Val) rs1350267738
NM_001113378.2(FANCI):c.91A>G (p.Asn31Asp) rs2151219666
NM_001113378.2(FANCI):c.96_98del (p.Leu33del) rs747603151

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