ClinVar Miner

List of variants studied for Keutel syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000900.5(MGP):c.304A>G (p.Thr102Ala) rs4236 0.41895
NM_000900.5(MGP):c.*552A>T rs1049897 0.36985
NM_000900.5(MGP):c.-63G>A rs1800801 0.32542
NM_000900.5(MGP):c.*343G>A rs35112962 0.01395
NM_000900.5(MGP):c.*615A>G rs34181533 0.01124
NM_000900.5(MGP):c.*604A>G rs114512785 0.01002
NM_000900.5(MGP):c.*206A>G rs144321187 0.00399
NM_000900.5(MGP):c.*140T>C rs148802642 0.00331
NM_000900.5(MGP):c.157A>G (p.Lys53Glu) rs1801716 0.00329
NM_000900.5(MGP):c.*538C>G rs139069321 0.00273
NM_000900.5(MGP):c.115A>C (p.Asn39His) rs145210821 0.00260
NM_000900.5(MGP):c.23C>T (p.Ala8Val) rs142330429 0.00171
NM_000900.5(MGP):c.*27T>G rs80337043 0.00164
NM_000900.5(MGP):c.*339T>C rs150038879 0.00163
NM_000900.4(MGP):c.-117C>T rs569710471 0.00071
NM_000900.5(MGP):c.207T>C (p.Asn69=) rs186013880 0.00056
NM_000900.4(MGP):c.-66C>A rs150994762 0.00043
NM_000900.5(MGP):c.234T>C (p.Leu78=) rs149084241 0.00034
NM_000900.5(MGP):c.198C>T (p.His66=) rs151158281 0.00024
NM_000900.5(MGP):c.*251T>C rs886049105 0.00016
NM_000900.5(MGP):c.*476T>C rs184916517 0.00014
NM_000900.5(MGP):c.*531T>C rs535008800 0.00001
NM_000900.5(MGP):c.84T>C (p.Ser28=) rs886049107 0.00001
NM_000900.5(MGP):c.*176C>G rs935518014
NM_000900.5(MGP):c.*315dup rs886049104
NM_000900.5(MGP):c.*455del rs886049103
NM_000900.5(MGP):c.*720C>A rs1032590657
NM_000900.5(MGP):c.*755G>T rs142773584
NM_000900.5(MGP):c.237C>T (p.Cys79=) rs886049106
NM_000900.5(MGP):c.46G>A (p.Val16Ile) rs868750856
NM_000900.5(MGP):c.62-18dup rs11393307
NM_000900.5(MGP):c.62-9del rs11393307
NM_000900.5(MGP):c.77T>C (p.Met26Thr) rs754107566

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.