ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia complementation group I by Fulgent Genetics, Fulgent Genetics

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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917 0.00051
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr) rs139181400 0.00031
NM_001113378.2(FANCI):c.1699-3C>G rs372441627 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.3419C>T (p.Thr1140Ile) rs142969866 0.00019
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) rs112387610 0.00019
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met) rs374363189 0.00016
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg) rs555904350 0.00016
NM_001113378.2(FANCI):c.-10A>G rs372076895 0.00014
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe) rs199502679 0.00012
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu) rs374908061 0.00012
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val) rs141879625 0.00010
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) rs112932178 0.00010
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile) rs140965103 0.00009
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys) rs144419129 0.00009
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_002693.3(POLG):c.*44G>C rs563185483 0.00009
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) rs139072231 0.00007
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619 0.00007
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg) rs377227097 0.00006
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys) rs1414995711 0.00006
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) rs377308647 0.00006
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly) rs768500794 0.00006
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln) rs142322239 0.00006
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp) rs755403672 0.00006
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn) rs779604966 0.00006
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) rs750792237 0.00006
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp) rs371568506 0.00005
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser) rs573652425 0.00005
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412 0.00005
NM_001113378.2(FANCI):c.157+7A>G rs145165730 0.00004
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr) rs147963936 0.00004
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser) rs866290050 0.00004
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn) rs374176569 0.00004
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343 0.00004
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) rs752114490 0.00004
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) rs138432305 0.00004
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser) rs182154506 0.00004
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln) rs772401747 0.00004
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met) rs1060501897 0.00003
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly) rs200007225 0.00003
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys) rs143105092 0.00003
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile) rs781175970 0.00003
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His) rs777483611 0.00003
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly) rs545673916 0.00003
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys) rs138702591 0.00003
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe) rs202066338 0.00003
NM_001113378.2(FANCI):c.601A>G (p.Met201Val) rs774564150 0.00003
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser) rs369268726 0.00002
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys) rs749295501 0.00002
NM_001113378.2(FANCI):c.197G>A (p.Arg66His) rs779515039 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.2878C>T (p.Arg960Trp) rs562503186 0.00002
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met) rs922792253 0.00002
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys) rs751222800 0.00002
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe) rs1435589915 0.00002
NM_001113378.2(FANCI):c.875A>G (p.His292Arg) rs764641724 0.00002
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) rs769485443 0.00002
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser) rs565007212 0.00001
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala) rs1012254525 0.00001
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile) rs1390853875 0.00001
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val) rs200186938 0.00001
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe) rs762294213 0.00001
NM_001113378.2(FANCI):c.1698+6G>T rs762886638 0.00001
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln) rs201641791 0.00001
NM_001113378.2(FANCI):c.1A>G (p.Met1Val) rs781249928 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr) rs911033971 0.00001
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451 0.00001
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu) rs1421332670 0.00001
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His) rs777269384 0.00001
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419 0.00001
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu) rs762647324 0.00001
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val) rs748546731 0.00001
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile) rs767462150 0.00001
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln) rs151267266 0.00001
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr) rs1194951081 0.00001
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg) rs150387641 0.00001
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val) rs1343059856 0.00001
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg) rs763822728 0.00001
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val) rs377630829 0.00001
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile) rs772071601 0.00001
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val) rs368451326 0.00001
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg) rs757106031 0.00001
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) rs757964620 0.00001
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys) rs780404413 0.00001
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser) rs754573704 0.00001
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu) rs1410323660 0.00001
NM_001113378.2(FANCI):c.571G>A (p.Val191Met) rs1296106146 0.00001
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val) rs749779839 0.00001
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val) rs778263817 0.00001
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser) rs575416245 0.00001
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del) rs770583031
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn) rs1429851841
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) rs2053319905
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val) rs746651145
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=) rs2054118261
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val) rs780410177
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu) rs1415605220
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr) rs769453869
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) rs2054689057
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp) rs1555442689
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) rs767466504
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile) rs978000003
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu) rs1252915442
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val) rs2055130868
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr) rs2152017364
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile) rs150076848
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly) rs551305056
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) rs138663330
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His) rs2151291390
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val) rs757102747
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala) rs1005232714
NM_001113378.2(FANCI):c.96_98del (p.Leu33del) rs747603151

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