ClinVar Miner

List of variants studied for Fanconi anemia by Mendelics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 226
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HGVS dbSNP
NC_000017.11:g.58692541G>A rs545213879
NM_000135.4(FANCA):c.*1C>T rs370357192
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu) rs17232246
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000136.3(FANCC):c.-79+98A>G rs1408056644
NM_000136.3(FANCC):c.-87G>A rs1051113986
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) rs1588070592
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071
NM_000136.3(FANCC):c.1155-29A>G rs759352163
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+306C>T rs185023012
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1534-18C>T rs1289718209
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys) rs1588008066
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+11G>C rs1588353233
NM_000136.3(FANCC):c.166-5C>T rs753820400
NM_000136.3(FANCC):c.166-7T>C rs369052148
NM_000136.3(FANCC):c.166-9C>G rs372507085
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) rs527289778
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser) rs777111154
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000136.3(FANCC):c.687-5G>T rs767811745
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu) rs769649289
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421
NM_001018115.3(FANCD2):c.1135-25G>A rs201770712
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741
NM_001018115.3(FANCD2):c.2494+95C>A rs1575797993
NM_001018115.3(FANCD2):c.2494+97T>A rs1575797996
NM_001018115.3(FANCD2):c.2494+98C>A rs1575798002
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251
NM_001018115.3(FANCD2):c.3777+83_3777+86del rs773716319
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.3706G>A (p.Val1236Ile) rs377165815
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001114636.1(FANCL):c.1036-6T>C rs377052216
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_004629.2(FANCG):c.770G>A (p.Arg257His) rs372234656
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg) rs765722724
NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln) rs142527605
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637
NM_005431.2(XRCC2):c.374_377ACTT[1] (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.39+8C>G rs200363289
NM_005431.2(XRCC2):c.40-16T>C rs41274991
NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu) rs143856570
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871
NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln) rs762828701
NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu) rs946075316
NM_005431.2(XRCC2):c.714G>C (p.Arg238Ser) rs534746330
NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser) rs771671971
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.778G>C (p.Val260Leu) rs1573514956
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser) rs1594799862
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val) rs755563315
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys) rs139074680
NM_021922.2(FANCE):c.1316G>T (p.Gly439Val) rs776298967
NM_021922.3(FANCE):c.248+2T>C rs1581696699
NM_032043.2(BRIP1):c.205+1del rs1057517648
NM_032043.2(BRIP1):c.2990_2993delCAAA rs771028677
NM_032043.2(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.2(BRIP1):c.720del (p.Lys240fs) rs1567838246
NM_032043.2(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.-22C>A rs377620948
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly) rs730881633
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met) rs927733243
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.1473+6A>G rs587780827
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1629-3T>C rs587780828
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
NM_032043.3(BRIP1):c.1935+5G>A rs1209289625
NM_032043.3(BRIP1):c.1936-2A>C rs878855143
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.3(BRIP1):c.2379+5G>C rs1567779316
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.3(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728
NM_032043.3(BRIP1):c.380-5A>G rs587782131
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.3(BRIP1):c.518G>A (p.Arg173His) rs761432927
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys) rs758851721
NM_032043.3(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly) rs878855158
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu) rs1380876424
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val) rs1596528058
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys) rs772190416
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala) rs745508761
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn) rs1596520868
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly) rs747230215
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter) rs1596520443
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs) rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs) rs1596519854
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070
NM_032444.4(SLX4):c.4881del (p.Thr1628fs) rs1596515638
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser) rs771897046
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287
NM_033084.5(FANCD2):c.1122A>G (p.Val374=) rs34046352
NM_033084.5(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.182C>T (p.Thr61Met) rs35110529
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.2022-5C>T rs4019784
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_058216.3(RAD51C):c.-2C>T rs876658796
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
NM_058216.3(RAD51C):c.1026+43C>T rs750859385
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602
NM_058216.3(RAD51C):c.145+11C>G rs1263551026
NM_058216.3(RAD51C):c.145+12T>G rs377297129
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.146-3C>T rs765143155
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val) rs749498443
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_058216.3(RAD51C):c.571+4A>G rs587780257
NM_058216.3(RAD51C):c.572-17G>T rs193023469
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg) rs876659009
NM_173472.2(FANCD2OS):c.43+5429_43+5434del rs766605179

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