ClinVar Miner

List of variants studied for Fumarase deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_000143.4(FH):c.*221_*222del rs112946286 0.01684
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000143.3(FH):c.*266A>G rs113667027 0.00037
NM_000143.4(FH):c.7C>G (p.Arg3Gly) rs202166344 0.00022
NM_000143.4(FH):c.1237-12A>T rs74405673 0.00019
NM_000143.4(FH):c.*92G>T rs202167168 0.00016
NM_000143.4(FH):c.122C>T (p.Ala41Val) rs201486221 0.00014
NM_000143.4(FH):c.739-10T>C rs201971572 0.00013
NM_000143.4(FH):c.379-15A>T rs374529177 0.00012
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000143.4(FH):c.*102T>C rs200093224 0.00009
NM_000143.4(FH):c.*211G>C rs1385240800 0.00007
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000143.4(FH):c.63C>T (p.Ala21=) rs555404867 0.00005
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.1482A>G (p.Ala494=) rs201559643 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000143.4(FH):c.305C>T (p.Ala102Val) rs61753295 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.738+14A>G rs765629644 0.00003
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.1109-7C>T rs1060504079 0.00001
NM_000143.4(FH):c.1443C>G (p.Thr481=) rs780200136 0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp) rs886046319 0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met) rs200343823 0.00001
NM_000143.4(FH):c.655G>A (p.Asp219Asn) rs11545656 0.00001
NM_000143.3(FH):c.-48G>T rs886046320
NM_000143.3(FH):c.-57C>G rs201589544
NM_000143.4(FH):c.-14G>C rs543556537
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000143.4(FH):c.1237-50TC[17] rs144131869
NM_000143.4(FH):c.1237-50TC[18] rs144131869
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000143.4(FH):c.1237-50TC[25] rs144131869
NM_000143.4(FH):c.1237-5_1237-4insCTCT rs886046316
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT rs1553340717
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.4(FH):c.1517T>G (p.Met506Arg)
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.905-5T>A rs886046318

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.