ClinVar Miner

List of variants in gene combination C1QTNF5, MFRP reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_031433.4(MFRP):c.315G>A (p.Leu105=) rs141109062 0.00085
NM_031433.4(MFRP):c.796C>T (p.Arg266Cys) rs138295825 0.00019
NM_031433.4(MFRP):c.950A>G (p.Tyr317Cys) rs151160924 0.00019
NM_031433.4(MFRP):c.1542G>C (p.Gln514His) rs368172459 0.00013
NM_031433.4(MFRP):c.159T>C (p.Gly53=) rs372897338 0.00011
NM_031433.4(MFRP):c.1256-4G>A rs142533439 0.00010
NM_031433.4(MFRP):c.506A>G (p.His169Arg) rs745894130 0.00003
NM_031433.4(MFRP):c.898+4C>T rs538868301 0.00002
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=) rs751346951 0.00001
NM_031433.4(MFRP):c.163C>T (p.Arg55Cys) rs727504016 0.00001
NM_031433.4(MFRP):c.38C>A (p.Ala13Glu) rs771633824 0.00001
NM_031433.4(MFRP):c.493C>T (p.Pro165Ser) rs201553042

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.