ClinVar Miner

List of variants in gene combination MYOT, PKD2L2-DT reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) rs146426896 0.00014
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00005
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) rs373489115 0.00004
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) rs1489391510 0.00003
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr) rs1163332539 0.00003
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr) rs201113539 0.00003
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser) rs200619317 0.00001
NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp) rs761598206 0.00001
NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu) rs765499949 0.00001
NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys) rs757233743 0.00001
NM_006790.3(MYOT):c.372del (p.Ala125fs) rs781353247 0.00001
NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys) rs2532026097
NM_006790.3(MYOT):c.1372C>A (p.Pro458Thr) rs2532026787
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.162CTC[1] (p.Ser56del) rs777691147
NM_006790.3(MYOT):c.376G>A (p.Gly126Ser)
NM_006790.3(MYOT):c.634-14_634-10del rs747808820

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.