ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia complementation group J by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.*3489T>C rs140891191 0.00554
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032043.3(BRIP1):c.*4040T>A rs111580456 0.00356
NM_032043.3(BRIP1):c.*128A>G rs150444311 0.00277
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_032043.3(BRIP1):c.*2337A>T rs373664066 0.00093
NM_032043.3(BRIP1):c.*3188G>A rs369850537 0.00090
NM_032043.3(BRIP1):c.*132G>A rs143361598 0.00089
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_032043.3(BRIP1):c.*2070G>A rs764258526 0.00056
NM_032043.3(BRIP1):c.*2667C>T rs373156872 0.00053
NM_032043.3(BRIP1):c.*380C>T rs556729826 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032043.3(BRIP1):c.*1868G>T rs184666432 0.00028
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032043.3(BRIP1):c.*3465A>T rs539412199 0.00023
NM_032043.3(BRIP1):c.*2812A>G rs112375062 0.00020
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_032043.3(BRIP1):c.*3827T>C rs1377513104 0.00015
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_032043.3(BRIP1):c.*2656A>G rs1052477488 0.00012
NM_032043.3(BRIP1):c.*4053T>C rs191840743 0.00012
NM_032043.3(BRIP1):c.*1792G>A rs746869920 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_032043.3(BRIP1):c.93+15G>A rs113052745 0.00009
NM_032043.3(BRIP1):c.*477A>G rs1030551071 0.00007
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.*2692A>G rs886053204 0.00005
NM_032043.3(BRIP1):c.*659G>A rs769375960 0.00005
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=) rs764848326 0.00005
NM_032043.3(BRIP1):c.*524A>G rs371689236 0.00004
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr) rs535414791 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_032043.2(BRIP1):c.-307G>A rs936277521 0.00003
NM_032043.3(BRIP1):c.*1393G>T rs754698039 0.00003
NM_032043.3(BRIP1):c.*2668G>A rs886053206 0.00003
NM_032043.3(BRIP1):c.*2691C>G rs886053205 0.00003
NM_032043.3(BRIP1):c.*2999T>C rs1357312726 0.00003
NM_032043.3(BRIP1):c.*3635T>C rs548812634 0.00003
NM_032043.3(BRIP1):c.*3924T>G rs886053195 0.00003
NM_032043.3(BRIP1):c.*900C>A rs886053210 0.00003
NM_032043.3(BRIP1):c.-229C>G rs886053217 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.*1330C>T rs933049932 0.00002
NM_032043.3(BRIP1):c.*3000C>G rs1373033399 0.00002
NM_032043.3(BRIP1):c.*3307T>C rs886053199 0.00002
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val) rs376893571 0.00002
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala) rs62620988 0.00002
NM_032043.3(BRIP1):c.*1239C>A rs1042958451 0.00001
NM_032043.3(BRIP1):c.*1908T>C rs1264916802 0.00001
NM_032043.3(BRIP1):c.*2522A>G rs886053207 0.00001
NM_032043.3(BRIP1):c.*3580T>A rs372023591 0.00001
NM_032043.3(BRIP1):c.*3617T>C rs886053198 0.00001
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser) rs777511615 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr) rs1003917080 0.00001
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092 0.00001
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=) rs374335608 0.00001
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=) rs937490699 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 0.00001
NM_032043.3(BRIP1):c.*1381G>T rs886053208
NM_032043.3(BRIP1):c.*1409T>A rs554933640
NM_032043.3(BRIP1):c.*1801T>G rs1479468180
NM_032043.3(BRIP1):c.*1930G>C rs2061267341
NM_032043.3(BRIP1):c.*2672G>A rs924486012
NM_032043.3(BRIP1):c.*2715C>T rs886053203
NM_032043.3(BRIP1):c.*2744A>G rs1311178838
NM_032043.3(BRIP1):c.*2756G>A rs182264505
NM_032043.3(BRIP1):c.*2868A>G rs1044791743
NM_032043.3(BRIP1):c.*288A>G rs886053213
NM_032043.3(BRIP1):c.*2926T>A rs886053201
NM_032043.3(BRIP1):c.*3093A>T rs944576811
NM_032043.3(BRIP1):c.*3145A>G rs886053200
NM_032043.3(BRIP1):c.*3821A>G rs886053197
NM_032043.3(BRIP1):c.*3918C>T rs886053196
NM_032043.3(BRIP1):c.*421C>T rs886053211
NM_032043.3(BRIP1):c.*612A>G rs2061285626
NM_032043.3(BRIP1):c.*684C>A rs2061284724
NM_032043.3(BRIP1):c.-232G>A rs2078998991
NM_032043.3(BRIP1):c.-38C>T rs371225829
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val) rs375246789
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly) rs587780231
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp) rs369434185
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.3(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.3(BRIP1):c.3203C>T (p.Pro1068Leu) rs2061316462
NM_032043.3(BRIP1):c.3251C>G (p.Thr1084Ser) rs876660768
NM_032043.3(BRIP1):c.54T>C (p.Pro18=) rs886053216
NM_032043.3(BRIP1):c.82A>G (p.Met28Val) rs1330147176

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.