ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-III-D by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002076.4(GNS):c.*2735C>T rs143396704 0.00233
NM_002076.4(GNS):c.*1681C>G rs142676698 0.00074
NM_002076.4(GNS):c.*152G>A rs768957003 0.00041
NM_002076.4(GNS):c.*357T>C rs554471490 0.00041
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002076.4(GNS):c.*2301G>A rs141182054 0.00032
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901 0.00028
NM_002076.4(GNS):c.*676A>G rs886049769 0.00025
NM_002076.4(GNS):c.*1759A>G rs540594590 0.00024
NM_002076.4(GNS):c.*2099G>A rs553360517 0.00024
NM_002076.4(GNS):c.5G>C (p.Arg2Pro) rs759075764 0.00016
NM_002076.4(GNS):c.*2612G>T rs533328232 0.00012
NM_002076.4(GNS):c.*2843C>T rs577545481 0.00011
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
NM_002076.4(GNS):c.*2656G>A rs577212739 0.00009
NM_002076.4(GNS):c.624+10A>G rs757526895 0.00009
NM_002076.4(GNS):c.876-13T>C rs543570530 0.00006
NM_002076.4(GNS):c.*2278A>C rs1036841344 0.00005
NM_002076.4(GNS):c.*2844G>A rs534118009 0.00005
NM_002076.4(GNS):c.*2447G>A rs567930294 0.00004
NM_002076.4(GNS):c.*71T>C rs983471422 0.00004
NM_002076.4(GNS):c.*2032T>A rs886049763 0.00003
NM_002076.4(GNS):c.*2560T>G rs886049762 0.00003
NM_002076.4(GNS):c.*2625G>A rs1468841522 0.00003
NM_002076.4(GNS):c.*2783C>T rs573404754 0.00003
NM_002076.4(GNS):c.*425G>A rs141736156 0.00003
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn) rs138335335 0.00003
NM_002076.4(GNS):c.*2740G>A rs886049761 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
NM_002076.4(GNS):c.*1435G>A rs547333907 0.00001
NM_002076.4(GNS):c.*2571T>C rs995044057 0.00001
NM_002076.4(GNS):c.*2699G>C rs867153534 0.00001
NM_002076.4(GNS):c.*334C>T rs886049771 0.00001
NM_002076.4(GNS):c.*764G>A rs886049767 0.00001
NM_002076.4(GNS):c.*826G>A rs886049766 0.00001
NM_002076.4(GNS):c.*86A>T rs1868866389 0.00001
NM_002076.4(GNS):c.*985A>G rs531715804 0.00001
NM_002076.4(GNS):c.-83G>C rs1290374156 0.00001
NM_002076.4(GNS):c.1104G>T (p.Leu368=) rs766168524 0.00001
NM_002076.4(GNS):c.1261C>T (p.Arg421Cys) rs1177531995 0.00001
NM_002076.4(GNS):c.1616G>A (p.Arg539His) rs766615352 0.00001
NM_002076.4(GNS):c.337A>G (p.Thr113Ala) rs886049772 0.00001
NM_002076.4(GNS):c.73G>A (p.Ala25Thr) rs540537083 0.00001
NM_002076.4(GNS):c.*1580A>G rs886049764
NM_002076.4(GNS):c.*1809T>C rs1868815358
NM_002076.4(GNS):c.*1977A>G rs1868809897
NM_002076.4(GNS):c.*2146G>A rs900823217
NM_002076.4(GNS):c.*2406A>G rs1868795917
NM_002076.4(GNS):c.*2489T>C rs529418480
NM_002076.4(GNS):c.*37G>T rs142001509
NM_002076.4(GNS):c.*574G>A rs886049770
NM_002076.4(GNS):c.*699G>C rs1868848563
NM_002076.4(GNS):c.*734A>G rs886049768
NM_002076.4(GNS):c.*846C>T rs886049765
NM_002076.4(GNS):c.-120A>G rs778270030
NM_002076.4(GNS):c.16C>G (p.Leu6Val) rs746189087
NM_002076.4(GNS):c.229A>G (p.Met77Val) rs763723151
NM_002076.4(GNS):c.939T>G (p.Thr313=) rs1869657867

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.