ClinVar Miner

List of variants studied for Fanconi anemia complementation group i

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 155
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HGVS dbSNP
FANCI, 2T-C
FANCI, IVS31AS, A-G, -88
NM_001113378.1(FANCI):c.*614T>G rs886051521
NM_001113378.1(FANCI):c.-23G>A rs886051506
NM_001113378.1(FANCI):c.-72C>G rs886051505
NM_001113378.1(FANCI):c.-90T>C rs559714713
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1113-10G>C rs756650711
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1412C>G (p.Pro471Arg) rs139072231
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1512+3A>G rs760846523
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.158-2A>G rs762128147
NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala) rs149223439
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.1698+15C>T rs9806604
NM_001113378.1(FANCI):c.1699-7C>A rs28446881
NM_001113378.1(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) rs369268726
NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) rs200007022
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.1850C>G (p.Ser617Cys) rs749295501
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) rs151038616
NM_001113378.1(FANCI):c.1890+3A>G rs886051510
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) rs118138806
NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) rs140965103
NM_001113378.1(FANCI):c.1939T>C (p.Leu647=) rs150231327
NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg) rs138026584
NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) rs143105092
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.1(FANCI):c.2056C>A (p.Gln686Lys) rs28378332
NM_001113378.1(FANCI):c.2071G>A (p.Glu691Lys) rs144419129
NM_001113378.1(FANCI):c.2169+12G>A rs886051512
NM_001113378.1(FANCI):c.2183A>G (p.Asp728Gly) rs752114490
NM_001113378.1(FANCI):c.2203A>G (p.Ile735Val) rs377308647
NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) rs2283432
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.2406T>C (p.Asp802=) rs147934193
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.2434A>G (p.Ser812Gly) rs768500794
NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) rs145762491
NM_001113378.1(FANCI):c.2507A>G (p.Asn836Ser) rs933284199
NM_001113378.1(FANCI):c.2509G>T (p.Glu837Ter) rs748000458
NM_001113378.1(FANCI):c.2519G>A (p.Arg840His) rs777483611
NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) rs17803620
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419
NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) rs35875311
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) rs368915464
NM_001113378.1(FANCI):c.286G>A (p.Glu96Lys) rs149243307
NM_001113378.1(FANCI):c.288+10C>T rs370505986
NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) rs886051507
NM_001113378.1(FANCI):c.2960C>T (p.Thr987Met) rs138432305
NM_001113378.1(FANCI):c.2992C>T (p.Pro998Ser) rs182154506
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3006+15A>C rs2159081
NM_001113378.1(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met) rs191202700
NM_001113378.1(FANCI):c.3237G>A (p.Thr1079=) rs767103109
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069
NM_001113378.1(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513
NM_001113378.1(FANCI):c.3400A>G (p.Ile1134Val) rs377630829
NM_001113378.1(FANCI):c.3457C>G (p.Leu1153Val)
NM_001113378.1(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917
NM_001113378.1(FANCI):c.3525C>A (p.Ala1175=) rs114810692
NM_001113378.1(FANCI):c.3592-8T>C rs185599057
NM_001113378.1(FANCI):c.3652-10A>G rs202231175
NM_001113378.1(FANCI):c.3660T>C (p.Ser1220=) rs116380142
NM_001113378.1(FANCI):c.3705C>T (p.Ala1235=) rs185771112
NM_001113378.1(FANCI):c.3721-15G>A rs552581027
NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734
NM_001113378.1(FANCI):c.3816+15A>T rs28493988
NM_001113378.1(FANCI):c.3832C>T (p.His1278Tyr) rs776134519
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.1(FANCI):c.528A>G (p.Gln176=) rs145939211
NM_001113378.1(FANCI):c.539T>C (p.Met180Thr) rs139834845
NM_001113378.1(FANCI):c.546-6C>T rs754929965
NM_001113378.1(FANCI):c.601A>G (p.Met201Val) rs774564150
NM_001113378.1(FANCI):c.606C>T (p.Phe202=) rs886051508
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.1(FANCI):c.824T>C (p.Ile275Thr) rs142906652
NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) rs113772230
NM_001113378.1(FANCI):c.919C>T (p.Pro307Ser) rs769485443
NM_001113378.1(FANCI):c.976-13A>T rs145864790
NM_001113378.2(FANCI):c.*662C>G
NM_001113378.2(FANCI):c.-10A>G
NM_001113378.2(FANCI):c.-56T>C
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=)
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn)
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro)
NM_001113378.2(FANCI):c.1890+10A>G
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser)
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
NM_001113378.2(FANCI):c.2292-11G>C
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg)
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=)
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)
NM_001113378.2(FANCI):c.3592-12C>T
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=)
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val)
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp)
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met)
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr)
NM_002693.2(POLG):c.*122G>A rs886051517
NM_002693.2(POLG):c.*30G>A rs3087376
NM_002693.2(POLG):c.*44G>C rs563185483
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.*63A>G rs552236933
NM_002693.2(POLG):c.3643+257T>G rs1061316
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_002693.2(POLG):c.3644-116T>C rs777372106
NM_002693.2(POLG):c.3644-16T>C rs536522307
NM_002693.2(POLG):c.3644-184T>C rs115758754
NM_002693.2(POLG):c.3644-72C>A rs1801377
NM_002693.2(POLG):c.3644-99C>T rs3176241
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) rs199751339
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_002693.3(POLG):c.*100G>A
NM_018193.3(FANCI):c.1743A>C (p.Glu581Asp) rs779310267
NM_018193.3(FANCI):c.3673C>T (p.Arg1225Ter) rs121918164
NM_018193.3(FANCI):c.3674G>A (p.Arg1225Gln) rs121918163
NM_018193.3(FANCI):c.557T>C (p.Leu186Pro) rs1370113722

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