ClinVar Miner

List of variants in gene MERTK reported by Blueprint Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.791C>G (p.Ala264Gly) rs199779970 0.00031
NM_006343.3(MERTK):c.2612T>C (p.Ile871Thr) rs377341255 0.00012
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.263C>T (p.Ser88Leu) rs372527246 0.00004
NM_006343.3(MERTK):c.61+3G>C rs746981720 0.00003
NM_006343.3(MERTK):c.1605-2A>G rs730880273 0.00002
NM_006343.3(MERTK):c.2159T>C (p.Leu720Pro) rs756205527 0.00002
NM_006343.3(MERTK):c.2486+6T>A rs772204397 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_006343.3(MERTK):c.1650del (p.Ile550fs) rs1252719064 0.00001
NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter) rs774755041 0.00001
NM_006343.3(MERTK):c.2273G>A (p.Arg758His) rs370526555 0.00001
NM_006343.3(MERTK):c.2362G>A (p.Val788Met) rs769691218 0.00001
NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys) rs757858711 0.00001
NM_006343.3(MERTK):c.842A>C (p.Lys281Thr) rs1374202092 0.00001
NM_006343.3(MERTK):c.1296+2dup rs1681147109
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe) rs79943145
NM_006343.3(MERTK):c.1670G>C (p.Arg557Pro) rs374078768
NM_006343.3(MERTK):c.1744_1751delinsT (p.Val581_Ile582insTer) rs1676904823
NM_006343.3(MERTK):c.2039A>C (p.His680Pro) rs749028235
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs) rs775776288
NM_006343.3(MERTK):c.2163T>A (p.His721Gln) rs749472520
NM_006343.3(MERTK):c.2164C>G (p.Arg722Gly) rs541717028
NM_006343.3(MERTK):c.2179C>T (p.Arg727Ter) rs746238212
NM_006343.3(MERTK):c.2189_2189+7delinsGGGGA rs1677289241
NM_006343.3(MERTK):c.2775T>C (p.His925=) rs1677519296
NM_006343.3(MERTK):c.2836T>G (p.Ser946Ala) rs1677520867
NM_006343.3(MERTK):c.368_369del (p.Tyr123fs) rs1684627892
NM_006343.3(MERTK):c.604C>T (p.Gln202Ter) rs1684979540

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.