ClinVar Miner

List of variants in gene MKKS studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_170784.3(MKKS):c.697A>C (p.Ile233Leu) rs141201812 0.00016
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_170784.3(MKKS):c.926G>A (p.Arg309His) rs199939179 0.00010
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.202T>G (p.Leu68Val) rs200836375 0.00004
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269 0.00004
NM_170784.3(MKKS):c.1161+4G>A rs761886025 0.00003
NM_170784.3(MKKS):c.1085A>G (p.His362Arg) rs373858682 0.00002
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.364C>T (p.His122Tyr) rs148221053 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_170784.3(MKKS):c.8G>A (p.Arg3His) rs770619894 0.00001
NM_170784.3(MKKS):c.1160A>G (p.Lys387Arg)
NM_170784.3(MKKS):c.1279A>G (p.Asn427Asp)
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) rs746696111
NM_170784.3(MKKS):c.154G>A (p.Gly52Ser)
NM_170784.3(MKKS):c.1619A>G (p.Asp540Gly)
NM_170784.3(MKKS):c.1669A>C (p.Asn557His)
NM_170784.3(MKKS):c.1696A>T (p.Ile566Phe)
NM_170784.3(MKKS):c.252T>A (p.His84Gln)
NM_170784.3(MKKS):c.25C>T (p.Pro9Ser)
NM_170784.3(MKKS):c.444G>C (p.Gln148His)
NM_170784.3(MKKS):c.65T>A (p.Val22Asp)
NM_170784.3(MKKS):c.739A>G (p.Thr247Ala)
NM_170784.3(MKKS):c.845dup (p.Leu283fs) rs1555801973

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.