ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia by Mendelics

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP
NM_000135.4(FANCA):c.*1C>T
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His)
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu)
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071
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.1363G>T (p.Ala455Ser) rs730881724
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801
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.1625G>A (p.Arg542Lys)
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
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.554G>A (p.Arg185Gln) rs370346767
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815
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.871T>C (p.Phe291Leu) rs769649289
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_001113378.1(FANCI):c.3706G>A (p.Val1236Ile) rs377165815
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_004629.2(FANCG):c.770G>A (p.Arg257His)
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg)
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.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_018062.4(FANCL):c.775+3A>G
NM_018062.4(FANCL):c.778G>C (p.Val260Leu)
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser)
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val)
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys)
NM_021922.2(FANCE):c.1316G>T (p.Gly439Val) rs776298967
NM_032043.2(BRIP1):c.-22C>A rs377620948
NM_032043.2(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.2(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.2(BRIP1):c.1066C>G (p.Arg356Gly) rs730881633
NM_032043.2(BRIP1):c.1131A>G (p.Ile377Met) rs927733243
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.2(BRIP1):c.1341-3C>G rs864622597
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.2(BRIP1):c.1473+6A>G rs587780827
NM_032043.2(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.2(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
NM_032043.2(BRIP1):c.1935+5G>A rs1209289625
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.2(BRIP1):c.2379+5G>C rs1567779316
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.2(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731
NM_032043.2(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079
NM_032043.2(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.2(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.2(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.2(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.2(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.2(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505
NM_032043.2(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983
NM_032043.2(BRIP1):c.326A>G (p.Asn109Ser) rs587782734
NM_032043.2(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.2(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923
NM_032043.2(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558
NM_032043.2(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893
NM_032043.2(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.2(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.2(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032043.2(BRIP1):c.415T>G (p.Ser139Ala) rs202072866
NM_032043.2(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.2(BRIP1):c.518G>A (p.Arg173His) rs761432927
NM_032043.2(BRIP1):c.588C>G (p.Asn196Lys) rs758851721
NM_032043.2(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.2(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.2(BRIP1):c.887A>G (p.Glu296Gly) rs878855158
NM_032043.2(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.2(BRIP1):c.991A>T (p.Met331Leu) rs1380876424
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val)
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.2654C>T (p.Pro885Leu) rs147492092
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys)
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala)
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn)
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly)
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070
NM_033084.6(FANCD2):c.3706C>T (p.Arg1236Cys)
NM_058216.3(RAD51C):c.-2C>T rs876658796
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val)
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.571+4A>G rs587780257
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.912T>G (p.Ser304Arg) rs876659009
NM_173472.2(FANCD2OS):c.43+5429_43+5434del rs766605179

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